List of diseases covered by Brugada Syndrome NGS panel

List of diseases covered by
Brugada Syndrome NGS panel

Gene Condition
CACNA1C Brugada syndrome 3
CACNB2 Brugada syndrome 4
GPD1L Brugada syndrome 2
HCN4 Brugada syndrome 8;
Sick sinus syndrome 2, autosomal dominant
KCND3 Brugada syndrome 9
KCNE3 Brugada syndrome 6
KCNJ8 Cantu syndrome, KCNJ8 related
SCN5A Atrial fibrillation, familial, 10; Brugada syndrome 1;
Dilated cardiomyopathy 1E; Long QT syndrome 3;
Sick sinus syndrome 1, autosomal recessive;
Paroxysmal familial ventricular fibrillation 1
SCN1B Atrial fibrillation, familial, 13; Brugada syndrome 5
SCN2B Atrial fibrillation, familial, 14
SCN3B Brugada syndrome 7
TRPM4 Progressive familial heart block, type IB

List of diseases covered by Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy NGS panel

List of diseases covered by Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
NGS panel

Gene Condition
CTNNA3 Arrhythmogenic right ventricular dysplasia, familial, 13
DES Dilated cardiomyopathy 1I
DSC2 Arrhythmogenic right ventricular cardiomyopathy, type 11
DSG2 Arrhythmogenic right ventricular cardiomyopathy, type 10;
Dilated cardiomyopathy 1BB
DSP Arrhythmogenic right ventricular cardiomyopathy, type 8;
Cardiomyopathy dilated with woolly hair and keratoderma;
Cardiomyopathy, dilated, with woolly hair, keratoderma,
and tooth agenesis
JUP Arrhythmogenic right ventricular cardiomyopathy, type 12;
Naxos disease
LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC;
Myopathy, myofibrillar, 4
LMNA Muscular dystrophy, limb-girdle, type 1B;
Charcot-Marie-Tooth disease, type 2B1;
Cardiomyopathy, dilated, 1A;
Emery-Dreifuss muscular dystrophy 2, AD;
Emery-Dreifuss muscular dystrophy 3, AR;
Muscular dystrophy, congenital
PKP2 Arrhythmogenic right ventricular cardiomyopathy, type 9
PLN Dilated cardiomyopathy 1P; Familial hypertrophic cardiomyopathy 18
RYR2 Arrhythmogenic right ventricular dysplasia, familial, 2;
Catecholaminergic polymorphic ventricular tachycardia type 1
TGFB3 Arrhythmogenic right ventricular dysplasia, familial 1
TMEM43 Arrhythmogenic right ventricular cardiomyopathy, type 5
TTN Muscular dystrophy, limb-girdle, type 2J;
Myopathy, proximal, with early respiratory muscle involvement;
Salih myopathy; Tibial muscular dystrophy, tardive;
Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9

List of diseases covered by Thyroid Cancer NGS panel

List of diseases covered by
Thyroid Cancer NGS panel

Gene Condition
APC Adenomatous polyposis coli; Colorectal cancer, somatic;
Desmoid disease, hereditary; Gardner syndrome;
Gastric cancer, somatic; Hepatoblastoma, somatic
CDC73 Hyperparathyroidism, familial primary;
Hyperparathyroidism-jaw tumor syndrome; Parathyroid carcinoma
DICER1 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors;
Pleuropulmonary blastoma; Rhabdomyosarcoma, embryonal, 2
MEN1 Multiple endocrine neoplasia 1
PRKAR1A Acrodysostosis 1, with or without hormone resistance;
Carney complex, type 1; Myxoma, intracardiac;
Pigmented nodular adrenocortical disease, primary, 1
PTEN Glioma susceptibility 2, Meningioma, Macrocephaly/autism syndrome;
Endometrial carcinoma, somatic; Malignant melanoma, somatic;
Squamous cell carcinoma, head and neck, somatic; Prostate cancer, somatic;
VATER association with macrocephaly and ventriculomegaly;
Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1
RET Medullary thyroid carcinoma;
Central hypoventilation syndrome, congenital;
Multiple endocrine neoplasia IIA; Multiple endocrine neoplasia IIB;
Pheochromocytoma; Hirschsprung disease, susceptibility to, 1
SDHB Cowden syndrome 2; Gastrointestinal stromal tumor;
Paraganglioma and gastric stromal sarcoma; Paragangliomas 4;
Pheochromocytoma
SDHD Carcinoid tumors, intestinal; Cowden syndrome 3;
Mitochondrial complex II deficiency;
Paraganglioma and gastric stromal sarcoma; Pheochromocytoma
TP53 Breast cancer; Adrenal cortical carcinoma;
Choroid plexus papilloma;
Colorectal cancer; Li-Fraumeni syndrome;
Nasopharyngeal carcinoma; Osteosarcoma; Pancreatic cancer;
Basal cell carcinoma 7;
Glioma susceptibility 1

List of diseases covered by Polyposis Syndromes NGS panel

List of diseases covered by
Polyposis Syndromes NGS panel

Gene Condition
APC Adenomatous polyposis coli; Colorectal cancer, somatic;
Desmoid disease, hereditary; Gardner syndrome;
Gastric cancer, somatic; Hepatoblastoma, somatic
BMPR1A Juvenile polyposis syndrome, infantile form;
Polyposis syndrome, hereditary mixed, 2
MUTYH Adenomas, multiple colorectal;
Colorectal adenomatous polyposis, autosomal recessive,
with pilomatricomas; Gastric cancer, somatic
PTEN Glioma susceptibility 2, Meningioma, Macrocephaly/autism syndrome;
Endometrial carcinoma, somatic; Malignant melanoma, somatic;
Squamous cell carcinoma, head and neck, somatic; Prostate cancer, somatic;
VATER association with macrocephaly and ventriculomegaly;
Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1
SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;
Myhre syndrome; Pancreatic cancer, somatic; Polyposis, juvenile intestinal
STK11 Pancreatic cancer; Peutz-Jeghers syndrome;
Testicular tumor, somatic

List of diseases covered by Fanconi Anemia NGS panel

List of diseases covered by
Fanconi Anemia NGS panel

Gene Condition
BRCA2 Fanconi anemia, complementation group D1; Wilms tumor;
Breast cancer, male, susceptibility to;
Breast-ovarian cancer, familial, 2; Glioblastoma 3;
Medulloblastoma; Pancreatic cancer 2; Prostate cancer
BRIP1 Breast cancer, early-onset; Fanconi anemia, complementation group J
ERCC4 Xeroderma pigmentosum, group F;
Fanconi anemia, complementation group Q;
XFE progeroid syndrome
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
PALB2 Breast cancer, susceptibility to;
Pancreatic cancer, susceptibility to, 3;
Fanconi anemia, complementation group N
RAD51C Breast-ovarian cancer, familial, susceptibility to, 3;
Fanconi anemia, complementation group O
SLX4 Fanconi anemia, complementation group P
XRCC2 Fanconi anemia, complementation group U

List of diseases covered by Cancer Predisposition NGS panel

List of diseases covered by
Cancer Predisposition NGS panel

Gene Condition
AIP Pituitary adenoma 1, multiple types
ALK Neuroblastoma, susceptibility to, 3
APC Adenomatous polyposis coli; Colorectal cancer, somatic;
Desmoid disease, hereditary; Gardner syndrome;
Gastric cancer, somatic; Hepatoblastoma, somatic
ATM Ataxia-telangiectasia; Breast cancer, susceptibility to
BAP1 Tumor predisposition syndrome
BARD1 Breast cancer, susceptibility to
BLM Bloom syndrome
BMPR1A Juvenile polyposis syndrome, infantile form;
Polyposis syndrome, hereditary mixed, 2
BRCA1 Breast-ovarian cancer, familial, 1; Pancreatic cancer, susceptibility to, 4;
Fanconi anemia, complementation group S
BRCA2 Fanconi anemia, complementation group D1; Wilms tumor;
Breast cancer, male, susceptibility to;
Breast-ovarian cancer, familial, 2; Glioblastoma 3;
Medulloblastoma; Pancreatic cancer 2; Prostate cancer
BRIP1 Breast cancer, early-onset; Fanconi anemia, complementation group J
BUB1B Colorectal cancer, somatic; Mosaic variegated aneuploidy syndrome 1;
Premature chromatid separation trait; Colorectal cancer, somatic
CDC73 Hyperparathyroidism, familial primary;
Hyperparathyroidism-jaw tumor syndrome; Parathyroid carcinoma
CDH1 Breast cancer, lobular; Prostate cancer, susceptibility to;
Endometrial carcinoma, somatic; Ovarian carcinoma, somatic;
Blepharocheilodontic syndrome 1;
Gastric cancer, familial diffuse, with or without cleft lip and/or palate
CDK4 Melanoma, cutaneous malignant, 3
CDKN1C Beckwith-Wiedemann syndrome; IMAGE syndrome
CDKN2A Melanoma and neural system tumor syndrome;
Pancreatic cancer/melanoma syndrome;
Melanoma, cutaneous malignant, 2
CEBPA Leukemia, acute myeloid
CEP57 Mosaic variegated aneuploidy syndrome 2
CHEK2 Breast cancer, susceptibility to; Prostate cancer, familial, susceptibility to;
Li-Fraumeni syndrome; Osteosarcoma, somatic
CYLD Trichoepithelioma, multiple familial, 1; Brooke-Spiegler syndrome;
Cylindromatosis, familial
DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype
DICER1 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors;
Pleuropulmonary blastoma; Rhabdomyosarcoma, embryonal, 2
DIS3L2 Perlman syndrome
EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in
EPCAM Colorectal cancer, hereditary nonpolyposis, type 8;
Diarrhea 5, with tufting enteropathy, congenital
ERCC2 Xeroderma pigmentosum, group D;
Cerebrooculofacioskeletal syndrome 2;
Trichothiodystrophy 1, photosensitive
ERCC3 Xeroderma pigmentosum, group B;
Trichothiodystrophy 2, photosensitive
ERCC4 Xeroderma pigmentosum, group F;
Fanconi anemia, complementation group Q;
XFE progeroid syndrome
ERCC5 Xeroderma pigmentosum, group G;
Cerebrooculofacioskeletal syndrome 3
EXT1 Chondrosarcoma; Exostoses, multiple, type 1
EXT2 Exostoses, multiple, type 2;
Seizures, scoliosis, and macrocephaly syndrome
EZH2 Weaver syndrome
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FH Leiomyomatosis and renal cell cancer; Fumarase deficiency
FLCN Birt-Hogg-Dube syndrome; Pneumothorax, primary spontaneous;
Colorectal cancer, somatic; Renal carcinoma, chromophobe, somatic
GATA2 Emberger syndrome; Immunodeficiency 21;
Leukemia, acute myeloid, susceptibility to;
Myelodysplastic syndrome, susceptibility to
GPC3 Simpson-Golabi-Behmel syndrome, type 1; Wilms tumor, somatic
HNF1A Renal cell carcinoma; Hepatic adenoma, somatic;
Diabetes mellitus, insulin-dependent, 20; MODY, type III;
Diabetes mellitus, insulin-dependent;
Diabetes mellitus, noninsulin-dependent, 2
HRAS Costello syndrome; Schimmelpenning-Feuerstein-Mims syndrome,
somatic mosaic; Bladder cancer, somatic;
Nevus sebaceous or woolly hair nevus, somatic;
Spitz nevus or nevus spilus, somatic; Thyroid carcinoma, follicular, somatic
KIT Gastrointestinal stromal tumor, familial; Germ cell tumors, somatic;
Leukemia, acute myeloid; Mastocytosis, cutaneous; Piebaldism
MAX Pheochromocytoma, susceptibility to
MEN1 Multiple endocrine neoplasia 1
MET Hepatocellular carcinoma, childhood type, somatic;
Renal cell carcinoma, papillary, 1, familial and somatic;
Deafness, autosomal recessive 97; Osteofibrous dysplasia, susceptibility to
MITF Melanoma, cutaneous malignant, susceptibility to, 8;
COMMAD syndrome; Tietz albinism-deafness syndrome;
Waardenburg syndrome, type 2A;
Waardenburg syndrome/ocular albinism, digenic
MLH1 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 2; Muir-Torre syndrome
MRE11A Ataxia-telangiectasia-like disorder 1
MSH2 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 1; Muir-Torre syndrome
MSH6 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 5;
Endometrial cancer, familial
MUTYH Adenomas, multiple colorectal;
Colorectal adenomatous polyposis, autosomal recessive,
with pilomatricomas; Gastric cancer, somatic
NBN Nijmegen breakage syndrome; Leukemia, acute lymphoblastic;
Aplastic anemia
NF1 Neurofibromatosis, type 1
NF2 Meningioma, NF2-related, somatic; Neurofibromatosis, type 2;
Schwannomatosis, somatic
NSD1 Leukemia, acute myeloid; Sotos syndrome 1
NTHL1 Familial adenomatous polyposis 3
PALB2 Breast cancer, susceptibility to;
Pancreatic cancer, susceptibility to, 3;
Fanconi anemia, complementation group N
PHOX2B Neuroblastoma with Hirschsprung disease;
Central hypoventilation syndrome, congenital,
with or without Hirschsprung disease
POLD1 Colorectal cancer, susceptibility to, 10;
Mandibular hypoplasia, deafness, progeroid features,
and lipodystrophy syndrome
PRF1 Aplastic anemia; Hemophagocytic lymphohistiocytosis, familial, 2;
Lymphoma, non-Hodgkin
PRKAR1A Acrodysostosis 1, with or without hormone resistance;
Carney complex, type 1; Myxoma, intracardiac;
Pigmented nodular adrenocortical disease, primary, 1
PRSS1 Pancreatitis, hereditary; Trypsinogen deficiency
PTCH1 Basal cell nevus syndrome; Holoprosencephaly 7;
Basal cell carcinoma, somatic
PTEN Glioma susceptibility 2, Meningioma, Macrocephaly/autism syndrome;
Endometrial carcinoma, somatic; Malignant melanoma, somatic;
Squamous cell carcinoma, head and neck, somatic; Prostate cancer, somatic;
VATER association with macrocephaly and ventriculomegaly;
Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1
RAD50 Nijmegen breakage syndrome-like disorder
RAD51C Breast-ovarian cancer, familial, susceptibility to, 3;
Fanconi anemia, complementation group O
RAD51D Breast-ovarian cancer, familial, susceptibility to, 4
RB1 Bladder cancer, somatic; Osteosarcoma, somatic; Retinoblastoma;
Small cell cancer of the lung, somatic
RECQL4 Baller-Gerold syndrome; RAPADILINO syndrome;
Rothmund-Thomson syndrome
RET Medullary thyroid carcinoma;
Central hypoventilation syndrome, congenital;
Multiple endocrine neoplasia IIA; Multiple endocrine neoplasia IIB;
Pheochromocytoma; Hirschsprung disease, susceptibility to, 1
RHBDF2 Tylosis with esophageal cancer
RUNX1 Leukemia, acute myeloid; Platelet disorder, familial,
with associated myeloid malignancy
SBDS Shwachman-Diamond syndrome; Aplastic anemia, susceptibility to
SDHA Cardiomyopathy, dilated, 1GG; Leigh syndrome;
Mitochondrial respiratory chain complex II deficiency; Paragangliomas 5
SDHAF2 Paragangliomas 2
SDHB Cowden syndrome 2; Gastrointestinal stromal tumor;
Paraganglioma and gastric stromal sarcoma; Paragangliomas 4;
Pheochromocytoma
SDHC Gastrointestinal stromal tumor;
Paraganglioma and gastric stromal sarcoma; Paragangliomas 3
SDHD Carcinoid tumors, intestinal; Cowden syndrome 3;
Mitochondrial complex II deficiency;
Paraganglioma and gastric stromal sarcoma; Pheochromocytoma
SLX4 Fanconi anemia, complementation group P
SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;
Myhre syndrome; Pancreatic cancer, somatic; Polyposis, juvenile intestinal
SMARCB1 Coffin-Siris syndrome 3;
Rhabdoid tumor predisposition syndrome 1;
Schwannomatosis-1, susceptibility to
STK11 Pancreatic cancer; Peutz-Jeghers syndrome;
Testicular tumor, somatic
SUFU Basal cell nevus syndrome; Joubert syndrome 32;
Medulloblastoma, desmoplastic; Meningioma, familial, susceptibility to
TMEM127 Pheochromocytoma, susceptibility to
TP53 Breast cancer; Adrenal cortical carcinoma;
Choroid plexus papilloma;
Colorectal cancer; Li-Fraumeni syndrome;
Nasopharyngeal carcinoma; Osteosarcoma; Pancreatic cancer;
Basal cell carcinoma 7;
Glioma susceptibility 1
TSC1 Focal cortical dysplasia, type II, somatic;
Lymphangioleiomyomatosis; Tuberous sclerosis-1
TSC2 Focal cortical dysplasia, type II, somatic;
Lymphangioleiomyomatosis, somatic; Tuberous sclerosis-2
VHL Erythrocytosis, familial, 2; Pheochromocytoma;
Renal cell carcinoma, somatic; von Hippel-Lindau syndrome
WRN Werner syndrome
WT1 Wilms tumor, type 1; Denys-Drash syndrome;
Frasier syndrome; Meacham syndrome; Mesothelioma, somatic;
Nephrotic syndrome, type 4
XPA Xeroderma pigmentosum, group A
XPC Xeroderma pigmentosum, group C
XRCC2 Fanconi anemia, complementation group U

List of diseases covered by Breast and Ovarian Cancer NGS panel

List of diseases covered by
Breast and Ovarian Cancer NGS panel

Gene Condition
ATM Ataxia-telangiectasia; Breast cancer, susceptibility to
BARD1 Breast cancer, susceptibility to
BRCA1 Breast-ovarian cancer, familial, 1; Pancreatic cancer, susceptibility to, 4;
Fanconi anemia, complementation group S
BRCA2 Fanconi anemia, complementation group D1; Wilms tumor;
Breast cancer, male, susceptibility to;
Breast-ovarian cancer, familial, 2; Glioblastoma 3;
Medulloblastoma; Pancreatic cancer 2; Prostate cancer
BRIP1 Breast cancer, early-onset; Fanconi anemia, complementation group J
CDH1 Breast cancer, lobular; Prostate cancer, susceptibility to;
Endometrial carcinoma, somatic; Ovarian carcinoma, somatic;
Blepharocheilodontic syndrome 1;
Gastric cancer, familial diffuse, with or without cleft lip and/or palate<
CHEK2 Breast cancer, susceptibility to; Prostate cancer, familial, susceptibility to;
Li-Fraumeni syndrome; Osteosarcoma, somatic
MEN1 Multiple endocrine neoplasia 1
MLH1 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 2; Muir-Torre syndrome
MRE11A Ataxia-telangiectasia-like disorder 1
MSH2 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 1; Muir-Torre syndrome
MSH6 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 5;
Endometrial cancer, familial
MUTYH Adenomas, multiple colorectal;
Colorectal adenomatous polyposis, autosomal recessive,
with pilomatricomas; Gastric cancer, somatic
NBN Nijmegen breakage syndrome; Leukemia, acute lymphoblastic;
Aplastic anemia
PALB2 Breast cancer, susceptibility to; Pancreatic cancer, susceptibility to, 3;
Fanconi anemia, complementation group N
PTCH1 Basal cell nevus syndrome; Holoprosencephaly 7; Basal cell carcinoma, somatic
PTEN Glioma susceptibility 2, Meningioma, Macrocephaly/autism syndrome;
Endometrial carcinoma, somatic; Malignant melanoma, somatic;
Squamous cell carcinoma, head and neck, somatic; Prostate cancer, somatic;
VATER association with macrocephaly and ventriculomegaly;
Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1
RAD50 Nijmegen breakage syndrome-like disorder
RAD51C Breast-ovarian cancer, familial, susceptibility to, 3;
Fanconi anemia, complementation group O
RAD51D Breast-ovarian cancer, familial, susceptibility to, 4
STK11 Pancreatic cancer; Peutz-Jeghers syndrome; Testicular tumor, somatic
TP53 Breast cancer; Adrenal cortical carcinoma;
Choroid plexus papilloma;
Colorectal cancer; Li-Fraumeni syndrome;
Nasopharyngeal carcinoma; Osteosarcoma; Pancreatic cancer;
Basal cell carcinoma 7;
Glioma susceptibility 1
XRCC2 Fanconi anemia, complementation group U

List of diseases covered by Ashkenazi Jewish diseases NGS panel

List of diseases covered by
Ashkenazi Jewish diseases NGS panel

Gene Condition
ABCC8 Diabetes mellitus, noninsulin-dependent;
Diabetes mellitus, permanent neonatal;
Diabetes mellitus, transient neonatal 2;
Hyperinsulinemic hypoglycemia, familial, 1;
Hypoglycemia of infancy, leucine-sensitive
AGL Glycogen storage disease IIIa
ASPA Canavan disease
BCKDHB Maple syrup urine disease, type Ib
BLM Bloom syndrome
BRCA1 Fanconi anemia, complementation group S;
Breast-ovarian cancer, familial, 1; Pancreatic cancer, susceptibility to, 4
BRCA2 Fanconi anemia, complementation group D1; Wilms tumor;
Breast cancer, male, susceptibility to;
Breast-ovarian cancer, familial, 2; Glioblastoma 3;
Medulloblastoma; Pancreatic cancer 2; Prostate cancer
CFTR Cystic fibrosis; Congenital bilateral absence of vas deferens;
Bronchiectasis with or without elevated sweat chloride 1,
modifier of; Pancreatitis, hereditary
CLRN1 Retinitis pigmentosa 61; Usher syndrome, type 3A
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
DLD Dihydrolipoamide dehydrogenase deficiency
F11 Factor XI deficiency, autosomal dominant;
Factor XI deficiency, autosomal recessive
FANCC Fanconi anemia, complementation group C
FKTN Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 4;
Muscular dystrophy-dystroglycanopathy
(congenital without mental retardation), type B, 4;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4;
Cardiomyopathy, dilated, 1X
GBA Gaucher disease, perinatal lethal; Gaucher disease, type I;
Gaucher disease, type II; Gaucher disease, type III;
Gaucher disease, type IIIc
GJB2 Bart-Pumphrey syndrome; Deafness, autosomal dominant 3A;
Deafness, autosomal recessive 1A;
Hystrix-like ichthyosis with deafness;
Keratitis-ichthyosis-deafness syndrome;
Keratoderma, palmoplantar, with deafness; Vohwinkel syndrome
G6PC Glycogen storage disease Ia
HEXA Tay-Sachs disease
IKBKAP Dysautonomia, familial
LCA5 Leber congenital amaurosis 5
LDLR Hypercholesterolemia, familial
LRRK2 Parkinson disease 8
MCOLN1 Mucolipidosis IV
MEFV Familial Mediterranean fever, AD; Familial Mediterranean fever, AR
MSH2 Colorectal cancer, hereditary nonpolyposis, type 1;
Mismatch repair cancer syndrome; Muir-Torre syndrome
MSH6 Colorectal cancer, hereditary nonpolyposis, type 5;
Endometrial cancer, familial; Mismatch repair cancer syndrome
NEB Nemaline myopathy 2, autosomal recessive
PCDH15 Deafness, autosomal recessive 23; Usher syndrome, type 1D/F digenic;
Usher syndrome, type 1F
SERPINA1 Emphysema due to AAT deficiency;
Pulmonary disease, chronic obstructive, susceptibility to
SMN1 Spinal muscular atrophy-1; Spinal muscular atrophy-2;
Spinal muscular atrophy-3; Spinal muscular atrophy-4
SMPD1 Niemann-Pick disease, type A; Niemann-Pick disease, type B
TMEM216 Joubert syndrome 2; Meckel syndrome 2
TOR1A Dystonia-1, torsion

List of diseases covered by Urea Cycle Disorder NGS panel

List of diseases covered by
Urea Cycle Disorder NGS panel

Gene Condition
ARG1 Argininemia
ASL Argininosuccinic aciduria
ASS1 Citrullinemia
CPS1 Carbamoylphosphate synthetase I deficiency
NAGS N-acetylglutamate synthase deficiency
OAT Gyrate atrophy of choroid and retina with or without ornithinemia
OTC Ornithine transcarbamylase deficiency
SLC7A7 Lysinuric protein intolerance
SLC25A13 Citrullinemia, adult-onset type II; Citrullinemia, type II, neonatal-onset
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome

List of diseases covered by Porphyria NGS panel

List of diseases covered by
Porphyria NGS panel

Gene Condition
ALAD Porphyria, acute hepatic
ALAS2 Protoporphyria, erythropoietic, X-linked; Anemia, sideroblastic, 1
CPOX Coproporphyria
FECH Protoporphyria, erythropoietic, 1
HFE Hemochromatosis; Porphyria cutanea tarda, susceptibility to;
Porphyria variegata, susceptibility to
HMBS Porphyria, acute intermittent
PPOX Porphyria variegata
UROD Porphyria cutanea tarda
UROS Porphyria, congenital erythropoietic

List of diseases covered by Methylmalonic Aciduria and Homocystinuria NGS panel

List of diseases covered by
Methylmalonic Aciduria and Homocystinuria NGS panel

Gene Condition
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type
ACSF3 Combined malonic and methylmalonic aciduria
AMN Megaloblastic anemia-1, Norwegian type
CBS Homocystinuria, B6-responsive and nonresponsive types
CD320 Methylmalonic aciduria, transient, due to transcobalamin receptor defect
CUBN Megaloblastic anemia-1, Finnish type
GIF Intrinsic factor deficiency
IVD Isovaleric acidemia
LMBRD1 Methylmalonic aciduria and homocystinuria, cblF type
MCEE Methylmalonyl-CoA epimerase deficiency
MLYCD Malonyl-CoA decarboxylase deficiency
MMAA Methylmalonic aciduria, vitamin B12-responsive
MMAB Methylmalonic aciduria, vitamin B12-responsive,
due to defect in synthesis of adenosylcobalamin,
cblB complementation type
MMACHC Methylmalonic aciduria and homocystinuria, cblC type
MMADHC Methylmalonic aciduria and homocystinuria, cblD type
MTHFR Homocystinuria due to MTHFR deficiency
MTR Homocystinuria-megaloblastic anemia, cblG complementation type
MTRR Homocystinuria-megaloblastic anemia, cbl E type
MUT Methylmalonic aciduria, mut(0) type
SUCLA2 Mitochondrial DNA depletion syndrome 5
(encephalomyopathic with or without methylmalonic aciduria)
SUCLG1 Mitochondrial DNA depletion syndrome 9
(encephalomyopathic type with methylmalonic aciduria)
TCN2 Transcobalamin II deficiency

List of diseases covered by Metabolic Myopathy and Rhabdomyolysis NGS panel

List of diseases covered by
Metabolic Myopathy and Rhabdomyolysis NGS panel

Gene Condition
ABHD5 Chanarin-Dorfman syndrome
ACAD9 Mitochondrial complex I deficiency due to ACAD9 deficiency
ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of
ACADVL VLCAD deficiency
AGL Glycogen storage disease IIIa
ALDOA Glycogen storage disease XII
AMPD1 Myopathy due to myoadenylate deaminase deficiency
CAV3 Muscular dystrophy, limb-girdle, type IC;
Cardiomyopathy, familial hypertrophic;
Creatine phosphokinase, elevated serum;
Long QT syndrome 9; Myopathy, distal, Tateyama type;
Rippling muscle disease
CPT2 CPT II deficiency, infantile; CPT II deficiency, lethal neonatal;
CPT II deficiency, myopathic, stress-induced
ENO3 Glycogen storage disease XIII
ETFA Glutaric acidemia IIA
ETFB Glutaric acidemia IIB
ETFDH Glutaric acidemia IIC
GAA Glycogen storage disease II
GBE1 Glycogen storage disease IV; Polyglucosan body disease, adult form
GYG1 Glycogen storage disease XV; Polyglucosan body myopathy 2
GYS1 Glycogen storage disease 0, muscle
HADHA LCHAD deficiency; Trifunctional protein deficiency
HADHB Trifunctional protein deficiency
ISCU Myopathy with lactic acidosis, hereditary
LDHA Glycogen storage disease XI
LPIN1 Myoglobinuria, acute recurrent, autosomal recessive
OPA1 Mitochondrial DNA depletion syndrome 14;
Behr syndrome; Optic atrophy 1; Optic atrophy plus syndrome
OPA3 3-methylglutaconic aciduria, type III; Optic atrophy 3 with cataract
PFKM Glycogen storage disease VII
PGAM2 Glycogen storage disease X
PGK1 Phosphoglycerate kinase 1 deficiency
PGM1 Congenital disorder of glycosylation, type It
PHKA1 Muscle glycogenosis
PNPLA2 Neutral lipid storage disease with myopathy
PRKAG2 Cardiomyopathy, hypertrophic 6;
Glycogen storage disease of heart, lethal congenital;
Wolff-Parkinson-White syndrome
POLG Mitochondrial DNA depletion syndrome 4A;
Mitochondrial DNA depletion syndrome 4B;
Mitochondrial recessive ataxia syndrome;
Progressive external ophthalmoplegia, autosomal dominant 1;
Progressive external ophthalmoplegia, autosomal recessive 1
POLG2 Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal dominant 4
PYGM McArdle disease
RRM2B Mitochondrial DNA depletion syndrome 8A;
Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal dominant 5
RYR1 Minicore myopathy with external ophthalmoplegia;
Central core disease; Malignant hyperthermia, susceptibility to, 1
SLC22A5 Carnitine deficiency, systemic primary
SLC25A20 Carnitine-acylcarnitine translocase deficiency
SUCLA2 Mitochondrial DNA depletion syndrome 5
TAZ Barth syndrome
TK2 Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal recessive 3;
TWNK Perrault syndrome 5; Mitochondrial DNA depletion syndrome 7;
Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal dominant 3
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type)

List of diseases covered by Lysosomal Storage Disease NGS panel

List of diseases covered by
Lysosomal Storage Disease NGS panel

Gene Condition
AGA Aspartylglucosaminuria
ARSA Metachromatic leukodystrophy
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
ASAH1 Farber lipogranulomatosis;
Spinal muscular atrophy with progressive myoclonic epilepsy
CLN3 Ceroid lipofuscinosis, neuronal, 3
CLN5 Ceroid lipofuscinosis, neuronal, 5
CLN6 Ceroid lipofuscinosis, neuronal, 6;
Ceroid lipofuscinosis, neuronal, Kufs type, adult onset
CLN8 Ceroid lipofuscinosis, neuronal, 8;
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant
CTNS Cystinosis, atypical nephropathic;
Cystinosis, late-onset juvenile or adolescent nephropathic;
Cystinosis, ocular nonnephropathic
CTSA Galactosialidosis
CTSC Haim-Munk syndrome; Papillon-Lefevre syndrome;
Periodontitis 1, juvenile
CTSD Ceroid lipofuscinosis, neuronal, 10
CTSK Pycnodysostosis
DNAJC5 Ceroid lipofuscinosis, neuronal, 4, Parry type
FUCA1 Fucosidosis
GAA Glycogen storage disease II
GALC Krabbe disease
GALNS Mucopolysaccharidosis IVA
GBA Gaucher disease, perinatal lethal; Gaucher disease, type I;
Gaucher disease, type II; Gaucher disease, type III;
Gaucher disease, type IIIc
GLA Fabry disease
GLB1 GM1-gangliosidosis, type I; GM1-gangliosidosis, type II;
GM1-gangliosidosis, type III;
Mucopolysaccharidosis type IVB (Morquio)
GM2A GM2-gangliosidosis, AB variant
GNPTAB Mucolipidosis II alpha/beta; Mucolipidosis III alpha/beta
GNPTG Mucolipidosis III gamma
GNS Mucopolysaccharidosis type IIID
GUSB Mucopolysaccharidosis VII
HEXA GM2-gangliosidosis, several forms
HEXB Sandhoff disease, infantile, juvenile, and adult forms
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C);
Retinitis pigmentosa 73
HYAL1 Mucopolysaccharidosis type IX
IDS Mucopolysaccharidosis II
IDUA Mucopolysaccharidosis Ih; Mucopolysaccharidosis Ih/s;
Mucopolysaccharidosis Is
LAMP2 Danon disease
LIPA Cholesteryl ester storage disease
MAN2B1 Mannosidosis, alpha-, types I and II
MANBA Mannosidosis, beta
MCOLN1 Mucolipidosis IV
MFSD8 Ceroid lipofuscinosis, neuronal, 7;
Macular dystrophy with central cone involvement
NAGA Kanzaki disease; Schindler disease, type I
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B);
Charcot-Marie-Tooth disease, axonal, type 2V
NEU1 Sialidosis, type I
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-pick disease, type C2
PPT1 Ceroid lipofuscinosis, neuronal, 1
PSAP Combined SAP deficiency; Gaucher disease, atypical;
Krabbe disease, atypical; ‘
Metachromatic leukodystrophy due to SAP-b deficiency
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo A)
SLC17A5 Sialic acid storage disorder, infantile; Salla disease
SMPD1 Niemann-Pick disease, type A; Niemann-Pick disease, type B
SUMF1 Multiple sulfatase deficiency
TPP1 Ceroid lipofuscinosis, neuronal, 2;
Spinocerebellar ataxia, autosomal recessive 7

List of diseases covered by Spinocerebellar Ataxia NGS panel

List of diseases covered by
Spinocerebellar Ataxia NGS panel

Gene Condition
ABCB7 Anemia, sideroblastic, with ataxia
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ACO2 Infantile cerebellar-retinal degeneration; Optic atrophy 9
AFG3L2 Spinocerebellar ataxia 28; Spastic ataxia 5, autosomal recessive
ANO10 Spinocerebellar ataxia, autosomal recessive 10
APTX Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ATCAY Ataxia, cerebellar, Cayman type
ATM Ataxia-telangiectasia
ATP8A2 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
CASK FG syndrome 4; Mental retardation and microcephaly
with pontine and cerebellar hypoplasia;
Mental retardation, with or without nystagmus
CCDC88C Spinocerebellar ataxia 40;
Hydrocephalus, nonsyndromic, autosomal recessive
CLCN2 Leukoencephalopathy with ataxia;
Epilepsy, juvenile absence, susceptibility to, 2
CLN5 Ceroid lipofuscinosis, neuronal, 5
COQ8A Coenzyme Q10 deficiency, primary, 4
CWF19L1 Spinocerebellar ataxia, autosomal recessive 17
CYP27A1 Cerebrotendinous xanthomatosis
DARS2 Leukoencephalopathy with brain stem
and spinal cord involvement and lactate elevation
FXN Friedreich ataxia
GOSR2 Epilepsy, progressive myoclonic 6
GRM1 Spinocerebellar ataxia 44; Spinocerebellar ataxia, autosomal recessive 13
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant;
Neuropathy, hereditary sensory, type IE
EEF2 Spinocerebellar ataxia 26
ELOVL4 Spinocerebellar ataxia 34;
Ichthyosis, spastic quadriplegia, and mental retardation;
Stargardt disease 3
ELOVL5 Spinocerebellar ataxia 38
FGF14 Spinocerebellar ataxia 27
FLVCR1 Ataxia, posterior column, with retinitis pigmentosa
ITPR1 Spinocerebellar ataxia 15;
Spinocerebellar ataxia 29, congenital nonprogressive; Gillespie syndrome
KCNC3 Spinocerebellar ataxia 13
KCND3 Spinocerebellar ataxia 19; Brugada syndrome 9
KCNJ10 SESAME syndrome; Enlarged vestibular aqueduct, digenic
LAMA1 Poretti-Boltshauser syndrome
NOP56 Spinocerebellar ataxia 36
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-pick disease, type C2
OPHN1 Mental retardation, X-linked,
with cerebellar hypoplasia and distinctive facial appearance
PDYN Spinocerebellar ataxia 23
PHYH Refsum disease
PNKP Ataxia-oculomotor apraxia 4;
Microcephaly, seizures, and developmental delay
PNPLA6 Spastic paraplegia 39, autosomal recessive;
Oliver-McFarlane syndrome; Boucher-Neuhauser syndrome;
Laurence-Moon syndrome
POLG Mitochondrial DNA depletion syndrome 4A;
Mitochondrial DNA depletion syndrome 4B;
Mitochondrial recessive ataxia syndrome;
Progressive external ophthalmoplegia, autosomal dominant 1;
Progressive external ophthalmoplegia, autosomal recessive 1
PRKCG Spinocerebellar ataxia 14
RUBCN Spinocerebellar ataxia, autosomal recessive 15
PTF1A Pancreatic agenesis 2; Pancreatic and cerebellar agenesis
RNF216 Cerebellar ataxia and hypogonadotropic hypogonadism
SACS Spastic ataxia, Charlevoix-Saguenay type
SETX Spinocerebellar ataxia, autosomal recessive 1;
Amyotrophic lateral sclerosis 4, juvenile
SIL1 Marinesco-Sjogren syndrome
SLC9A1 Lichtenstein-Knorr syndrome
SLC9A6 Mental retardation, X-linked syndromic, Christianson type
SLC52A2 Brown-Vialetto-Van Laere syndrome 2
SNX14 Spinocerebellar ataxia, autosomal recessive 20
SPTBN2 Spinocerebellar ataxia 5; Spinocerebellar ataxia, autosomal recessive 14
STUB1 Spinocerebellar ataxia, autosomal recessive 16
SYNE1 Spinocerebellar ataxia, autosomal recessive 8;
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYT14 Spinocerebellar ataxia, autosomal recessive 11
TTBK2 Spinocerebellar ataxia 11
TDP1 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
TGM6 Spinocerebellar ataxia 35
TMEM240 Spinocerebellar ataxia 21
TPP1 Spinocerebellar ataxia, autosomal recessive 7;
Ceroid lipofuscinosis, neuronal, 2
TTPA Ataxia with isolated vitamin E deficiency
TUBB4A Dystonia 4, torsion, autosomal dominant;
Leukodystrophy, hypomyelinating, 6
TWNK Perrault syndrome 5; Mitochondrial DNA depletion syndrome 7;
Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal dominant 3
WFS1 Wolfram syndrome 1; Wolfram-like syndrome, autosomal dominant;
Deafness, autosomal dominant 6/14/38
WWOX Spinocerebellar ataxia, autosomal recessive 12;
Epileptic encephalopathy, early infantile, 28

List of diseases covered by Glycogen Storage Disease NGS panel

List of diseases covered by
Glycogen Storage Disease NGS panel

Gene Condition
AGL Glycogen storage disease IIIa
ALDOA Glycogen storage disease XII
ENO3 Glycogen storage disease XIII
FBP1 Fructose-1,6-bisphosphatase deficiency
G6PC Glycogen storage disease Ia
GAA Glycogen storage disease II
GBE1 Glycogen storage disease IV; Polyglucosan body disease, adult form
GYG1 Polyglucosan body myopathy 2; Glycogen storage disease XV
GYS1 Glycogen storage disease 0, muscle
GYS2 Glycogen storage disease 0, liver
LAMP2 Danon disease
LDHA Glycogen storage disease XI
PFKM Glycogen storage disease VII
PGAM2 Glycogen storage disease X
PGK1 Phosphoglycerate kinase 1 deficiency
PGM1 Congenital disorder of glycosylation, type It
PHKA1 Muscle glycogenosis
PHKA2 Glycogen storage disease, type IXa1
PHKB Phosphorylase kinase deficiency of liver and muscle,
autosomal recessive
PHKG2 Glycogen storage disease IXc
PRKAG2 Glycogen storage disease of heart, lethal congenital;
Cardiomyopathy, hypertrophic 6; Wolff-Parkinson-White syndrome
PYGL Glycogen storage disease VI
PYGM McArdle disease
SLC2A2 Fanconi-Bickel syndrome; Diabetes mellitus, noninsulin-dependent
SLC37A4 Glycogen storage disease Ib; Glycogen storage disease Ic

List of diseases covered by Fatty Acid Oxidation Disorder NGS panel

List of diseases covered by
Fatty Acid Oxidation Disorder NGS panel

Gene Condition
ACAD9 Mitochondrial complex I deficiency due to ACAD9 deficiency
ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACADVL VLCAD deficiency
CPT1A CPT deficiency, hepatic, type IA
CPT2 CPT II deficiency, infantile; CPT II deficiency, lethal neonatal;
CPT II deficiency, myopathic, stress-induced
ETFA Glutaric acidemia IIA
ETFB Glutaric acidemia IIB
ETFDH Glutaric acidemia IIC
GLUD1 Hyperinsulinism-hyperammonemia syndrome
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA Fatty liver, acute, of pregnancy; Trifunctional protein deficiency
HADHB Trifunctional protein deficiency
HMGCL HMG-CoA lyase deficiency
HMGCS2 HMG-CoA synthase-2 deficiency
HSD17B10 HSD10 mitochondrial disease
LPIN1 Myoglobinuria, acute recurrent, autosomal recessive
PPARG Carotid intimal medial thickness 1;
Lipodystrophy, familial partial, type 3; Obesity, severe
SLC22A5 Carnitine deficiency, systemic primary
SLC25A20 Carnitine-acylcarnitine translocase deficiency
TAZ Barth syndrome

List of diseases covered by Skeletal Dysplasia NGS panel

List of diseases covered by
Skeletal Dysplasia NGS panel

Gene Condition
ALPL Hypophosphatasia, adult; Hypophosphatasia, childhood;
Hypophosphatasia, infantile; Odontohypophosphatasia
COL2A1 Stickler syndrome type 1;
Stickler sydrome, type I, nonsyndromic ocular;
Achondrogenesis, type II or hypochondrogenesis;
Avascular necrosis of the femoral head; Czech dysplasia;
Epiphyseal dysplasia, multiple, with myopia and deafness;
Kniest dysplasia; Legg-Calve-Perthes disease;
Legg-Calve-Perthes disease;
Osteoarthritis with mild chondrodysplasia;
Platyspondylic skeletal dysplasia, Torrance type; SED congenita;
SMED Strudwick type; Spondyloepiphyseal dysplasia, Stanescu type;
Spondyloperipheral dysplasia
ESCO2 Roberts syndrome; SC phocomelia syndrome
FGFR1 Pfeiffer syndrome; Encephalocraniocutaneous lipomatosis;
Hartsfield syndrome; Hypogonadotropic hypogonadism 2
with or without anosmia; Jackson-Weiss syndrome;
Osteoglophonic dysplasia; Trigonocephaly 1
FGFR2 Apert syndrome; Beare-Stevenson cutis gyrata syndrome;
Antley-Bixler syndrome without genital anomalies or
disordered steroidogenesis; Bent bone dysplasia syndrome;
Craniofacial-skeletal-dermatologic dysplasia; Crouzon syndrome;
Jackson-Weiss syndrome; LADD syndrome;
Pfeiffer syndrome; Saethre-Chotzen syndrome;
Scaphocephaly, maxillary retrusion, and mental retardation
FGFR3 CATSHL syndrome; Achondroplasia;
Crouzon syndrome with acanthosis nigricans;
Hypochondroplasia; LADD syndrome; Muenke syndrome;
SADDAN; Thanatophoric dysplasia, type I;
Thanatophoric dysplasia, type II
IL11RA Craniosynostosis and dental anomalies
MSX2 Craniosynostosis 2; Parietal foramina 1;
Parietal foramina with cleidocranial dysplasia
RECQL4 Baller-Gerold syndrome; RAPADILINO syndrome;
Rothmund-Thomson syndrome
ROR2 Robinow syndrome, autosomal recessive; Brachydactyly, type B1
SLC26A2 Achondrogenesis Ib; Atelosteogenesis, type II;
De la Chapelle dysplasia; Diastrophic dysplasia;
Epiphyseal dysplasia, multiple, 4
SOX9 Campomelic dysplasia
TRIP11 Achondrogenesis, type IA
TWIST1 Craniosynostosis 1; Robinow-Sorauf syndrome;
Saethre-Chotzen syndrome with or without eyelid anomalies;
Sweeney-Cox syndrome
WNT5A Robinow syndrome, autosomal dominant 1

List of diseases covered by Skeletal Ciliopathies NGS panel

List of diseases covered by
Skeletal Ciliopathies NGS panel

Gene Condition
CEP120 Joubert syndrome 31;
Short-rib thoracic dysplasia 13 with or without polydactyly
COMP Pseudoachondroplasia; Epiphyseal dysplasia, multiple, 1
CSPP1 Joubert syndrome 21
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly
DYNC2LI1 Short-rib thoracic dysplasia 15 with polydactyly
EVC Ellis-van Creveld syndrome; Weyers acrofacial dysostosis
EVC2 Ellis-van Creveld syndrome; Weyers acrofacial dysostosis
FGFR3 CATSHL syndrome; Achondroplasia;
Crouzon syndrome with acanthosis nigricans;
Hypochondroplasia; LADD syndrome; Muenke syndrome;
SADDAN; Thanatophoric dysplasia, type I;
Thanatophoric dysplasia, type II
IFT43 Short-rib thoracic dysplasia 18 with polydactyly;
Cranioectodermal dysplasia 3
IFT122 Cranioectodermal dysplasia 1
IFT52 Short-rib thoracic dysplasia 16 with or without polydactyly
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly
IFT140 Short-rib thoracic dysplasia 9 with or without polydactyly
IFT172 Short-rib thoracic dysplasia 10 with or without polydactyly
KIAA0586 Joubert syndrome 23;
Short-rib thoracic dysplasia 14 with polydactyly
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly
TCTEX1D2 Short-rib thoracic dysplasia 17 with or without polydactyly
TCTN3 Joubert syndrome 18; Orofaciodigital syndrome IV
TTC21B Short-rib thoracic dysplasia 4 with or without polydactyly;
Nephronophthisis 12
WDR19 Senior-Loken syndrome 8; Nephronophthisis 13;
Short-rib thoracic dysplasia 5 with or without polydactyly;
Cranioectodermal dysplasia 4
WDR34 Short-rib thoracic dysplasia 11 with or without polydactyly
WDR35 Short-rib thoracic dysplasia 7 with or without polydactyly;
Cranioectodermal dysplasia 2
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly

List of diseases covered by Noonan Syndrome NGS panel

List of diseases covered by
Noonan Syndrome NGS panel

Gene Condition
BRAF Noonan syndrome 7; LEOPARD syndrome 3;
Cardiofaciocutaneous syndrome
CBL Noonan syndrome-like disorder with or without juvenile
myelomonocytic leukemia
HRAS Costello syndrome
KAT6B Genitopatellar syndrome; SBBYSS syndrome
KRAS Noonan syndrome 3; Cardiofaciocutaneous syndrome 2
MAP2K1 Cardiofaciocutaneous syndrome 3
MAP2K2 Cardiofaciocutaneous syndrome 4
NRAS Noonan syndrome 6
PTPN11 Noonan syndrome 1; LEOPARD syndrome 1; Metachondromatosis
RAF1 Noonan syndrome 5; LEOPARD syndrome 2;
Cardiomyopathy, dilated, 1NN
SHOC2 Noonan-like syndrome with loose anagen hair
SOS1 Noonan syndrome 4
SPRED1 Legius syndrome

List of diseases covered by Microcephaly NGS panel

List of diseases covered by Microcephaly NGS panel

Gene Condition
AP4M1 Spastic paraplegia 50, autosomal recessive
ASPM Microcephaly 5, primary, autosomal recessive
CASK Mental retardation and microcephaly
with pontine and cerebellar hypoplasia;
Mental retardation, with or without nystagmus
CDK5RAP2 Microcephaly 3, primary, autosomal recessive
CENPJ Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4
CEP63 Seckel syndrome 6
CEP135 Microcephaly 8, primary, autosomal recessive
CEP152 Microcephaly 9, primary, autosomal recessive; Seckel syndrome 5
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type
IER3IP1 Microcephaly, epilepsy, and diabetes syndrome
KIF11 Microcephaly with or without chorioretinopathy, lymphedema,
or mental retardation
KNL1 Microcephaly 4, primary, autosomal recessive
MCPH1 Microcephaly 1, primary, autosomal recessive
NDE1 Microhydranencephaly; Lissencephaly 4 (with microcephaly)
NHEJ1 Severe combined immunodeficiency with microcephaly,
growth retardation, and sensitivity to ionizing radiation
PAFAH1B1 Lissencephaly 1
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
PNKP Microcephaly, seizures, and developmental delay;
Ataxia-oculomotor apraxia 4
POMT1 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 1;
Muscular dystrophy-dystroglycanopathy
(congenital with mental retardation), type B, 1;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
SLC25A19 Microcephaly, Amish type;
Thiamine metabolism dysfunction syndrome 4
STIL Microcephaly 7, primary, autosomal recessive
TUBB2B Cortical dysplasia, complex, with other brain malformations 7
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1
WDR62 Microcephaly 2, primary, autosomal recessive,
with or without cortical malformations

List of diseases covered by Brain malformations NGS panel

List of diseases covered by
Brain malformations NGS panel

Gene Condition
ACTB Baraitser-Winter syndrome 1; Dystonia, juvenile-onset
ACTG1 Baraitser-Winter syndrome 2/td>
ADGRG1 Polymicrogyria, bilateral frontoparietal;
Polymicrogyria, bilateral perisylvian
AHI1 Joubert syndrome 3
AKT3 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
AMPD2 Pontocerebellar hypoplasia, type 9; Spastic paraplegia 63
AMT Glycine encephalopathy
AP4M1 Spastic paraplegia 50, autosomal recessive
ARFGEF2 Periventricular heterotopia with microcephaly
ARL13B Joubert syndrome 8
ARX Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2;
Mental retardation, X-linked 29 and others; Partington syndrome;
Proud syndrome
ASPM Microcephaly 5, primary, autosomal recessive
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome
ATR Seckel syndrome 1; Cutaneous telangiectasia and cancer syndrome,
familial
ATRX Mental retardation-hypotonic facies syndrome, X-linked;
Alpha-thalassemia/mental retardation syndrome;
Alpha-thalassemia myelodysplasia syndrome, somatic
B9D1 Joubert syndrome 27; Meckel syndrome 9
B3GALNT2 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies, type A, 11
B3GNT1 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 13
CASK Mental retardation, with or without nystagmus;
Mental retardation and microcephaly
with pontine and cerebellar hypoplasia
CC2D2A COACH syndrome; Joubert syndrome 9; Meckel syndrome 6
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus
syndrome 3
CDK5RAP2 Microcephaly 3, primary, autosomal recessive
CENPJ Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4
CEP135 Microcephaly 8, primary, autosomal recessive
CEP290 Senior-Loken syndrome 6; Meckel syndrome 4; Joubert syndrome 5
CEP152 Microcephaly 9, primary, autosomal recessive; Seckel syndrome 5
CEP63 Seckel syndrome 6
CEP41 Joubert syndrome 15
CHMP1A Pontocerebellar hypoplasia, type 8
CLP1 Pontocerebellar hypoplasia, type 10
C5orf42 Orofaciodigital syndrome VI; Joubert syndrome 17
CREBBP Rubinstein-Taybi syndrome 1
CUL4B Mental retardation, X-linked, syndromic 15 (Cabezas type)
DCX Lissencephaly, X-linked
DHCR7 Smith-Lemli-Opitz syndrome
DHCR24 Desmosterolosis
DLAT Pyruvate dehydrogenase E2 deficiency
DLD Dihydrolipoamide dehydrogenase deficiency
DYNC1H1 Mental retardation, autosomal dominant 13;
Charcot-Marie-Tooth disease, axonal, type 20;
Spinal muscular atrophy, lower extremity-predominant 1, AD
ETFA Glutaric acidemia IIA
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type
ERMARD Periventricular nodular heterotopia 6
ETFB Glutaric acidemia IIB
ETFDH Glutaric acidemia IIC
EXOSC3 Pontocerebellar hypoplasia, type 1B
FAT4 Van Maldergem syndrome 2;
Hennekam lymphangiectasia-lymphedema syndrome 2
FKRP Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 5;
Muscular dystrophy-dystroglycanopathy
(congenital with or without mental retardation), type B, 5;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
FKTN Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 4;
Muscular dystrophy-dystroglycanopathy
(congenital without mental retardation), type B, 4;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4;
Cardiomyopathy, dilated, 1X
FLNA FG syndrome 2; Cardiac valvular dysplasia, X-linked;
Congenital short bowel syndrome; Frontometaphyseal dysplasia 1;
Heterotopia, periventricular; Melnick-Needles syndrome;
Otopalatodigital syndrome, type I;
Otopalatodigital syndrome, type II;
Terminal osseous dysplasia
GCSH Glycine encephalopathy
GLDC Glycine encephalopathy
GMPPB Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 14;
Muscular dystrophy-dystroglycanopathy
(congenital with mental retardation), type B, 14;
Muscular dystrophy-dystroglycanopathy
(congenital with mental retardation), type B, 14;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
GPSM2 Chudley-McCullough syndrome
IER3IP1 Microcephaly, epilepsy, and diabetes syndrome
INPP5E Mental retardation, truncal obesity, retinal dystrophy, and micropenis;
Joubert syndrome 1
ISPD Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 7;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
KIF11 Microcephaly with or without chorioretinopathy,
lymphedema, or mental retardation
KIF7 Joubert syndrome 12; Hydrolethalus syndrome 2;
Hydrolethalus syndrome 2; Al-Gazali-Bakalinova syndrome
KIF2A Cortical dysplasia, complex, with other brain malformations 3
KIF1BP Goldberg-Shprintzen megacolon syndrome
KIF5C Cortical dysplasia, complex, with other brain malformations 2
KNL1 Microcephaly 4, primary, autosomal recessive
LAMA2 Muscular dystrophy, congenital merosin-deficient
LAMB1 Lissencephaly 5
LAMC3 Cortical malformations, occipital
LARGE1 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 6;
Muscular dystrophy-dystroglycanopathy
(congenital with mental retardation), type B, 6
MCPH1 Microcephaly 1, primary, autosomal recessive
MECP2 Encephalopathy, neonatal severe;
Mental retardation, X-linked syndromic, Lubs type;
Mental retardation, X-linked, syndromic 13; Rett syndrome
MKS1 Meckel syndrome 1; Joubert syndrome 28; Bardet-Biedl syndrome 13
NBN Nijmegen breakage syndrome; Aplastic anemia;
Leukemia, acute lymphoblastic
NDE1 Lissencephaly 4 (with microcephaly); Microhydranencephaly
NHEJ1 Severe combined immunodeficiency with microcephaly,
growth retardation, and sensitivity to ionizing radiation
NPHP1 Joubert syndrome 4; Nephronophthisis 1, juvenile;
Senior-Loken syndrome-1
OCLN Pseudo-TORCH syndrome 1
OFD1 Joubert syndrome 10; Orofaciodigital syndrome I;
Simpson-Golabi-Behmel syndrome, type 2; Retinitis pigmentosa 23
OPHN1 Mental retardation, X-linked, with cerebellar hypoplasia and
distinctive facial appearance
PAFAH1B1 Lissencephaly 1
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency
PDHB Pyruvate dehydrogenase E1-beta deficiency
PDHX Lacticacidemia due to PDX1 deficiency
PDP1 Pyruvate dehydrogenase phosphatase deficiency
PEX1 Heimler syndrome 1; Peroxisome biogenesis disorder 1A
(Zellweger); Peroxisome biogenesis disorder 1B (NALD/IRD)
PEX2 Peroxisome biogenesis disorder 5A (Zellweger);
Peroxisome biogenesis disorder 5B
PEX3 Peroxisome biogenesis disorder 10A (Zellweger);
Peroxisome biogenesis disorder 10B
PEX5 Peroxisome biogenesis disorder 2A (Zellweger);
Peroxisome biogenesis disorder 2B;
Rhizomelic chondrodysplasia punctata, type 5
PEX6 Heimler syndrome 2; Peroxisome biogenesis disorder 4A
(Zellweger); Peroxisome biogenesis disorder 4B
PEX10 Peroxisome biogenesis disorder 6A (Zellweger);
Peroxisome biogenesis disorder 6B
PEX12 Peroxisome biogenesis disorder 3A (Zellweger);
Peroxisome biogenesis disorder 3B
PEX13 Peroxisome biogenesis disorder 11A (Zellweger);
Peroxisome biogenesis disorder 11B
PEX14 Peroxisome biogenesis disorder 13A (Zellweger)
PEX16 Peroxisome biogenesis disorder 8A (Zellweger);
Peroxisome biogenesis disorder 8B
PEX19 Peroxisome biogenesis disorder 12A (Zellweger)
PEX26 Peroxisome biogenesis disorder 7A (Zellweger);
Peroxisome biogenesis disorder 7B
PIEZO2 Marden-Walker syndrome; Arthrogryposis, distal, type 3;
Arthrogryposis, distal, type 5;
Arthrogryposis, distal, with impaired proprioception and touch
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus
syndrome 1
PNKP Ataxia-oculomotor apraxia 4;
Microcephaly, seizures, and developmental delay
POMGNT1 Muscular dystrophy-dystroglycanopathy, type A, 3;
Muscular dystrophy-dystroglycanopathy, type B, 3;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
POMGNT2 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies, type A, 8
POMK Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12;
Muscular dystrophy-dystroglycanopathy, type A, 12
POMT1 Muscular dystrophy-dystroglycanopathy, type A, 1;
Muscular dystrophy-dystroglycanopathy, type B, 1;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
POMT2 Muscular dystrophy-dystroglycanopathy, type A, 2;
Muscular dystrophy-dystroglycanopathy, type B, 2;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
PQBP1 Renpenning syndrome
RAB18 Warburg micro syndrome 3
RAB3GAP1 Warburg micro syndrome 1
RAB3GAP2 Martsolf syndrome; Warburg micro syndrome 2
RARS2 Pontocerebellar hypoplasia, type 6
RELN Lissencephaly 2 (Norman-Roberts type),
RPGRIP1L COACH syndrome; Joubert syndrome 7; Meckel syndrome 5
RTTN Microcephaly, short stature, and polymicrogyria with seizures
SEPSECS Pontocerebellar hypoplasia type 2D
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy
SLC25A19 Microcephaly, Amish type;
Thiamine metabolism dysfunction syndrome 4
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis,
and palmoplantar keratoderma syndrome
SRD5A3 Congenital disorder of glycosylation, type Iq; Kahrizi syndrome
SRPX2 Rolandic epilepsy, mental retardation, and speech dyspraxia
STIL Microcephaly 7, primary, autosomal recessive
TBC1D20 Warburg micro syndrome 4
TCF4 Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3
TCTN1 Joubert syndrome 13
TCTN2 Joubert syndrome 24; Meckel syndrome 8
TCTN3 Joubert syndrome 18; Orofaciodigital syndrome IV
TMEM231 Joubert syndrome 20; Meckel syndrome 11
TMEM237 Joubert syndrome 14
TMEM216 Joubert syndrome 2; Meckel syndrome 2
TMEM138 Joubert syndrome 16
TMEM67 Joubert syndrome 6; Meckel syndrome 3; COACH syndrome;
Nephronophthisis 11
TMEM5 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 10
TSEN2 Pontocerebellar hypoplasia type 2B
TSEN34 Pontocerebellar hypoplasia type 2C
TSEN54 Pontocerebellar hypoplasia type 5;
Pontocerebellar hypoplasia type 2A;
Pontocerebellar hypoplasia type 4
TTC21B Nephronophthisis 12;
Short-rib thoracic dysplasia 4 with or without polydactyly
TUBA1A Lissencephaly 3
TUBA8 Cortical dysplasia, complex, with other brain malformations 8
TUBB Cortical dysplasia, complex, with other brain malformations 6;
Symmetric circumferential skin creases, congenital, 1
TUBB2A Cortical dysplasia, complex, with other brain malformations 5
TUBB2B Cortical dysplasia, complex, with other brain malformations 7
TUBB3 Cortical dysplasia, complex, with other brain malformations 1;
Fibrosis of extraocular muscles, congenital, 3A
TUBB4A Dystonia 4, torsion, autosomal dominant
TUBG1 Cortical dysplasia, complex, with other brain malformations 4
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1
VLDLR Cerebellar hypoplasia and mental retardation
with or without quadrupedal locomotion 1
VRK1 Pontocerebellar hypoplasia type 1A
WASHC5 Ritscher-Schinzel syndrome 1;
Spastic paraplegia 8, autosomal dominant
WDR62 Microcephaly 2, primary, autosomal recessive,
with or without cortical malformations
ZEB2 Mowat-Wilson syndrome
ZNF423 Joubert syndrome 19

List of diseases covered by Craniosynostosis NGS panel

List of diseases covered by
Craniosynostosis NGS panel

Gene Condition
FGFR1 Pfeiffer syndrome; Encephalocraniocutaneous lipomatosis;
Hartsfield syndrome; Hypogonadotropic hypogonadism 2
with or without anosmia; Jackson-Weiss syndrome;
Osteoglophonic dysplasia; Trigonocephaly 1
FGFR2 Apert syndrome; Beare-Stevenson cutis gyrata syndrome;
Antley-Bixler syndrome without genital anomalies or
disordered steroidogenesis; Bent bone dysplasia syndrome;
Craniofacial-skeletal-dermatologic dysplasia; Crouzon syndrome;
Jackson-Weiss syndrome; LADD syndrome;
Pfeiffer syndrome; Saethre-Chotzen syndrome;
Scaphocephaly, maxillary retrusion, and mental retardation
FGFR3 Achondroplasia; CATSHL syndrome;
Crouzon syndrome with acanthosis nigricans; Hypochondroplasia;
LADD syndrome; Muenke syndrome; SADDAN;
Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II
IL11RA Craniosynostosis and dental anomalies
MSX2 Craniosynostosis 2; Parietal foramina 1;
Parietal foramina with cleidocranial dysplasia
RECQL4 Baller-Gerold syndrome; RAPADILINO syndrome;
Rothmund-Thomson syndrome
TWIST1 Craniosynostosis 1; Robinow-Sorauf syndrome;
Saethre-Chotzen syndrome with or without eyelid anomalies;
Sweeney-Cox syndrome

List of diseases covered by Microcephaly NGS panel

List of diseases covered by Microcephaly NGS panel

Gene Condition
AP4M1 Spastic paraplegia 50, autosomal recessive
ASPM Microcephaly 5, primary, autosomal recessive
CASK Mental retardation and microcephaly
with pontine and cerebellar hypoplasia;
Mental retardation, with or without nystagmus
CDK5RAP2 Microcephaly 3, primary, autosomal recessive
CENPJ Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4
CEP63 Seckel syndrome 6
CEP135 Microcephaly 8, primary, autosomal recessive
CEP152 Microcephaly 9, primary, autosomal recessive; Seckel syndrome 5
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type
IER3IP1 Microcephaly, epilepsy, and diabetes syndrome
KIF11 Microcephaly with or without chorioretinopathy, lymphedema,
or mental retardation
KNL1 Microcephaly 4, primary, autosomal recessive
MCPH1 Microcephaly 1, primary, autosomal recessive
NDE1 Microhydranencephaly; Lissencephaly 4 (with microcephaly)
NHEJ1 Severe combined immunodeficiency with microcephaly,
growth retardation, and sensitivity to ionizing radiation
PAFAH1B1 Lissencephaly 1
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
PNKP Microcephaly, seizures, and developmental delay;
Ataxia-oculomotor apraxia 4
POMT1 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 1;
Muscular dystrophy-dystroglycanopathy
(congenital with mental retardation), type B, 1;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
SLC25A19 Microcephaly, Amish type;
Thiamine metabolism dysfunction syndrome 4
STIL Microcephaly 7, primary, autosomal recessive
TUBB2B Cortical dysplasia, complex, with other brain malformations 7
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1
WDR62 Microcephaly 2, primary, autosomal recessive,
with or without cortical malformations

List of diseases covered by Neurodegeneration with Brain Iron Accumulation NGS panel

List of diseases covered by
Neurodegeneration with Brain Iron Accumulation
NGS panel

Gene Condition
ATP13A2 Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive
COASY Neurodegeneration with brain iron accumulation 6
C19orf12 Neurodegeneration with brain iron accumulation 4;
Spastic paraplegia 43, autosomal recessive
CP Cerebellar ataxia
DCAF17 Woodhouse-Sakati syndrome
FA2H Spastic paraplegia 35, autosomal recessive
FTL Neurodegeneration with brain iron accumulation 3;
Hyperferritinemia-cataract syndrome; L-ferritin deficiency,
dominant and recessive
PANK2 Neurodegeneration with brain iron accumulation 1; HARP syndrome
PLA2G6 Neurodegeneration with brain iron accumulation 2B;
Infantile neuroaxonal dystrophy 1;
Parkinson disease 14, autosomal recessive
WDR45 Neurodegeneration with brain iron accumulation 5

List of diseases covered by nuclear genes NGS panel

List of diseases covered by
nuclear genes NGS panel

Gene Condition
AARS2 Combined oxidative phosphorylation deficiency 8;
Leukoencephalopathy, progressive, with ovarian failure
ABCB7 Anemia, sideroblastic, with ataxia
ACAD9 Mitochondrial complex I deficiency due to ACAD9 deficiency
ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACADVL VLCAD deficiency
AFG3L2 Spastic ataxia 5, autosomal recessive; Spinocerebellar ataxia 28
AIFM1 Combined oxidative phosphorylation deficiency 6;
Cowchock syndrome; Deafness, X-linked 5
ALAS2 Anemia, sideroblastic, 1; Protoporphyria, erythropoietic, X-linked
APTX Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ATPAF2 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
ATP5F1E Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
AUH 3-methylglutaconic aciduria, type I
BCS1L Mitochondrial complex III deficiency, nuclear type 1;
Bjornstad syndrome; GRACILE syndrome; Leigh syndrome
BOLA3 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
C12orf65 Combined oxidative phosphorylation deficiency 7;
Spastic paraplegia 55, autosomal recessive
CISD2 Wolfram syndrome 2
COA5 Cardioencephalomyopathy, fatal infantile,
due to cytochrome c oxidase deficiency 3
COQ2 Coenzyme Q10 deficiency, primary, 1;
Multiple system atrophy, susceptibility to
COQ6 Coenzyme Q10 deficiency, primary, 6
COQ9 Coenzyme Q10 deficiency, primary, 5
COQ8A Coenzyme Q10 deficiency, primary, 4
COX10 Mitochondrial complex IV deficiency;
Leigh syndrome due to mitochondrial COX4 deficiency
COX15 Leigh syndrome due to
cytochrome c oxidase deficiency;
Cardioencephalomyopathy, fatal infantile,
due to cytochrome c oxidase deficiency 2
COX6B1 Mitochondrial complex IV deficiency
CPT1A CPT deficiency, hepatic, type IA
CPT2 CPT II deficiency, infantile; CPT II deficiency, lethal neonatal;
CPT II deficiency, myopathic, stress-induced
DARS2 Leukoencephalopathy with brain stem
and spinal cord involvement and lactate elevation
DGUOK Mitochondrial DNA depletion syndrome 3 (hepatocerebral type);
Portal hypertension, noncirrhotic;
Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal recessive 4
DLAT Pyruvate dehydrogenase E2 deficiency
DLD Dihydrolipoamide dehydrogenase deficiency
DNAJC19 3-methylglutaconic aciduria, type V
DNM1L Encephalopathy, lethal,
due to defective mitochondrial peroxisomal fission 1; Optic atrophy 5
ETFA Glutaric acidemia IIA
ETFB Glutaric acidemia IIB
ETFDH Glutaric acidemia IIC
ETHE1 Ethylmalonic encephalopathy
FASTKD2 Mitochondrial complex IV deficiency
FBP1 Fructose-1,6-bisphosphatase deficiency
FH Fumarase deficiency; Leiomyomatosis and renal cell cancer
FOXRED1 Leigh syndrome due to mitochondrial complex I deficiency;
Mitochondrial complex I deficiency
G6PC Glycogen storage disease Ia
GAMT Cerebral creatine deficiency syndrome 2
GATM Cerebral creatine deficiency syndrome 3
GFER Myopathy, mitochondrial progressive, with congenital cataract,
hearing loss, and developmental delay
GFM1 Combined oxidative phosphorylation deficiency 1
GYS2 Glycogen storage disease 0, liver
HARS2 Perrault syndrome 2
HLCS Holocarboxylase synthetase deficiency
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency;
Hyperinsulinemic hypoglycemia, familial, 4
HADHA LCHAD deficiency; Trifunctional protein deficiency
HSPD1 Leukodystrophy, hypomyelinating, 4;
Spastic paraplegia 13, autosomal dominant
ISCU Myopathy with lactic acidosis, hereditary
LRPPRC Leigh syndrome, French-Canadian type
MFN2 Charcot-Marie-Tooth disease, axonal, type 2A2A;
Charcot-Marie-Tooth disease, axonal, type 2A2B;
Hereditary motor and sensory neuropathy VIA
MPV17 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MRPS16 Combined oxidative phosphorylation deficiency 2
MRPS22 Combined oxidative phosphorylation deficiency 5
MTFMT Combined oxidative phosphorylation deficiency 15
MTPAP Spastic ataxia 4, autosomal recessive
NDUFA1 Mitochondrial complex I deficiency
NDUFA10 Leigh syndrome
NDUFA11 Mitochondrial complex I deficiency
NDUFA12 Leigh syndrome due to mitochondrial complex 1 deficiency
NDUFA2 Leigh syndrome due to mitochondrial complex I deficiency
NDUFAF1 Mitochondrial complex I deficiency
NDUFAF2 Mitochondrial complex I deficiency
NDUFAF3 Mitochondrial complex I deficiency
NDUFAF4 Mitochondrial complex I deficiency
NDUFAF5 Mitochondrial complex 1 deficiency
NDUFB3 Mitochondrial complex I deficiency
NDUFB9 Mitochondrial complex I deficiency
NDUFS1 Mitochondrial complex I deficiency
NDUFS2 Mitochondrial complex I deficiency
NDUFS3 Leigh syndrome due to mitochondrial complex I deficiency;
Mitochondrial complex I deficiency
NDUFS4 Leigh syndrome; Mitochondrial complex I deficiency
NDUFS6 Mitochondrial complex I deficiency
NDUFS7 Leigh syndrome
NDUFS8 Leigh syndrome due to mitochondrial complex I deficiency
NDUFV1 Mitochondrial complex I deficiency
NDUFV2 Mitochondrial complex I deficiency
NFU1 Multiple mitochondrial dysfunctions syndrome 1
NUBPL Mitochondrial complex I deficiency
OPA1 Mitochondrial DNA depletion syndrome 14; Behr syndrome;
Optic atrophy 1; Optic atrophy plus syndrome
OPA3 3-methylglutaconic aciduria, type III; Optic atrophy 3 with cataract
PC Pyruvate carboxylase deficiency
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency
PDHB Pyruvate dehydrogenase E1-beta deficiency
PDHX Lacticacidemia due to PDX1 deficiency
PDP1 Pyruvate dehydrogenase phosphatase deficiency
PDSS1 Coenzyme Q10 deficiency, primary, 2
PDSS2 Coenzyme Q10 deficiency, primary, 3
PDX1 MODY, type IV; Pancreatic agenesis 1
POLG Mitochondrial DNA depletion syndrome 4A (Alpers type);
Mitochondrial DNA depletion syndrome 4B (MNGIE type);
Mitochondrial recessive ataxia syndrome
(includes SANDO and SCAE);
Progressive external ophthalmoplegia, autosomal dominant 1;
Progressive external ophthalmoplegia, autosomal recessive 1
POLG2 Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal dominant 4
PUS1 Myopathy, lactic acidosis, and sideroblastic anemia 1
RARS2 Pontocerebellar hypoplasia, type 6
REEP1 Neuronopathy, distal hereditary motor, type VB;
Spastic paraplegia 31, autosomal dominant
RRM2B Mitochondrial DNA depletion syndrome 8A ;
Progressive external ophthalmoplegia with
mitochondrial DNA deletions, autosomal dominant 5
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
SCO1 Mitochondrial complex IV deficiency
SCO2 Cardioencephalomyopathy, fatal infantile,
due to cytochrome c oxidase deficiency 1; Myopia 6
SDHA Mitochondrial respiratory chain complex II deficiency;
Leigh syndrome; Cardiomyopathy, dilated, 1GG; Paragangliomas 5
SDHAF1 Mitochondrial complex II deficiency
SETX Amyotrophic lateral sclerosis 4, juvenile;
Spinocerebellar ataxia, autosomal recessive 1
SLC19A3 Thiamine metabolism dysfunction syndrome 2
SLC25A20 Carnitine-acylcarnitine translocase deficiency
SLC25A3 Mitochondrial phosphate carrier deficiency
SLC25A4 Mitochondrial DNA depletion syndrome 12A
(cardiomyopathic type) AD;
Mitochondrial DNA depletion syndrome 12B
(cardiomyopathic type) AR;
Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal dominant 2
SLC6A8 Cerebral creatine deficiency syndrome 1
SLC37A4 Glycogen storage disease Ib; Glycogen storage disease Ic
SOD1 Amyotrophic lateral sclerosis 1
SPG7 Spastic paraplegia 7, autosomal recessive
SUCLA2 Mitochondrial DNA depletion syndrome 5
SUCLG1 Mitochondrial DNA depletion syndrome 9
SURF1 Charcot-Marie-Tooth disease, type 4K;
Leigh syndrome, due to COX IV deficiency
TACO1 Mitochondrial complex IV deficiency
TAZ Barth syndrome
TIMM8A Mohr-Tranebjaerg syndrome
TK2 Mitochondrial DNA depletion syndrome 2;
Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal recessive 3
TMEM126A Optic atrophy 7
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TRMU Liver failure, transient infantile; Deafness, mitochondrial, modifier of
TSFM Combined oxidative phosphorylation deficiency 3
TTC19 Mitochondrial complex III deficiency, nuclear type 2
TUFM Combined oxidative phosphorylation deficiency 4
TWNK Mitochondrial DNA depletion syndrome 7; Perrault syndrome 5;
Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal dominant 3
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type)
UQCRB Mitochondrial complex III deficiency, nuclear type 3
UQCRQ Mitochondrial complex III deficiency, nuclear type 4
WFS1 Deafness, autosomal dominant 6/14/38; Wolfram syndrome 1;
Wolfram-like syndrome, autosomal dominant;
Cataract 41; Diabetes mellitus, noninsulin-dependent, association with
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2

List of diseases covered by Limb-Girdle Muscular Dystrophy NGS panel

List of diseases covered by
Limb-Girdle Muscular Dystrophy NGS panel

Gene Condition
ANO5 Muscular dystrophy, limb-girdle, type 2L;
Miyoshi muscular dystrophy 3; Gnathodiaphyseal dysplasia
CAPN3 Muscular dystrophy, limb-girdle, type 2A
CAV3 Muscular dystrophy, limb-girdle, type IC;
Cardiomyopathy, familial hypertrophic;
Creatine phosphokinase, elevated serum;
Long QT syndrome 9; Myopathy, distal, Tateyama type;
Rippling muscle disease
DAG1 Muscular dystrophy-dystroglycanopathy, type A, 9;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
DES Muscular dystrophy, limb-girdle, type 2R;
Cardiomyopathy, dilated, 1I; Myopathy, myofibrillar, 1;
Scapuloperoneal syndrome, neurogenic, Kaeser type
DNAJB6 Muscular dystrophy, limb-girdle, type 1E
DYSF Muscular dystrophy, limb-girdle, type 2B;
Miyoshi muscular dystrophy 1; Myopathy, distal, with anterior tibial onset
FKTN Muscular dystrophy-dystroglycanopathy, type A, 4;
Muscular dystrophy-dystroglycanopathy, type B, 4;
Muscular dystrophy-dystroglycanopathy
(limb-girdle), type C, 4; Cardiomyopathy, dilated, 1X
GMPPB Muscular dystrophy-dystroglycanopathy, type A, 14;
Muscular dystrophy-dystroglycanopathy, type B, 14;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
HNRNPDL Muscular dystrophy, limb-girdle, type 1G
ISPD Muscular dystrophy-dystroglycanopathy, type A, 7;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
LMNA Muscular dystrophy, limb-girdle, type 1B;
Charcot-Marie-Tooth disease, type 2B1;
Cardiomyopathy, dilated, 1A;
Emery-Dreifuss muscular dystrophy 2, AD;
Emery-Dreifuss muscular dystrophy 3, AR;
Muscular dystrophy, congenital
MYOT Muscular dystrophy, limb-girdle, type 1A; Myopathy, myofibrillar, 3;
Myopathy, spheroid body
PLEC Muscular dystrophy, limb-girdle, type 2Q;
Epidermolysis bullosa simplex with nail dystrophy;
Epidermolysis bullosa simplex with muscular dystrophy;
Epidermolysis bullosa simplex with pyloric atresia;
Epidermolysis bullosa simplex, Ogna type
POMGNT1 Muscular dystrophy-dystroglycanopathy, type A, 3;
Muscular dystrophy-dystroglycanopathy, type B, 3;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
POMK Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12;
Muscular dystrophy-dystroglycanopathy, type A, 12
POMT1 Muscular dystrophy-dystroglycanopathy, type A, 1;
Muscular dystrophy-dystroglycanopathy, type B, 1;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
POMT2 Muscular dystrophy-dystroglycanopathy, type A, 2;
Muscular dystrophy-dystroglycanopathy, type B, 2;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
SGCA Muscular dystrophy, limb-girdle, type 2D
SGCB Muscular dystrophy, limb-girdle, type 2E
SGCD Muscular dystrophy, limb-girdle, type 2F; Cardiomyopathy, dilated, 1L
SGCG Muscular dystrophy, limb-girdle, type 2C
TCAP Muscular dystrophy, limb-girdle, type 2G; Cardiomyopathy, hypertrophic, 25
TNPO3 Muscular dystrophy, limb-girdle, type 1F
TRAPPC11 Muscular dystrophy, limb-girdle, type 2S
TRIM32 Muscular dystrophy, limb-girdle, type 2H; Bardet-Biedl syndrome 11
TTN Muscular dystrophy, limb-girdle, type 2J;
Myopathy, proximal, with early respiratory muscle involvement;
Salih myopathy; Tibial muscular dystrophy, tardive;
Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9

List of diseases covered by Joubert Syndrome NGS panel

List of diseases covered by
Joubert Syndrome NGS panel

Gene Condition
AHI1 Joubert syndrome 3
ARL13B Joubert syndrome 8
B9D1 Joubert syndrome 27; Meckel syndrome 9
B9D2 Joubert syndrome 34
C5orf42 Joubert syndrome 17; Orofaciodigital syndrome VI
CC2D2A Joubert syndrome 9; Meckel syndrome 6; COACH syndrome
CEP290 Joubert syndrome 5; Meckel syndrome 4; Senior-Loken syndrome 6;
Leber congenital amaurosis 10; Bardet-Biedl syndrome 14
CEP41 Joubert syndrome 15
CEP104 Joubert syndrome 25
CSPP1 Joubert syndrome 21
INPP5E Joubert syndrome 1; Mental retardation, truncal obesity,
retinal dystrophy, and micropenis
KIF7 Joubert syndrome 12; Hydrolethalus syndrome 2;
Al-Gazali-Bakalinova syndrome
KIAA0556 Joubert syndrome 26
KIAA0586 Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly
MKS1 Joubert syndrome 28; Meckel syndrome 1; Bardet-Biedl syndrome 13
NPHP1 Joubert syndrome 4; Nephronophthisis 1, juvenile;
Senior-Loken syndrome-1
OFD1 Joubert syndrome 10; Orofaciodigital syndrome I;
Simpson-Golabi-Behmel syndrome, type 2; Retinitis pigmentosa 23
PDE6D Joubert syndrome 22
RPGRIP1L Joubert syndrome 7; COACH syndrome; Meckel syndrome 5
TCTN1 Joubert syndrome 13
TCTN2 Joubert syndrome 24; Meckel syndrome 8
TCTN3 Joubert syndrome 18; Orofaciodigital syndrome IV
TMEM138 Joubert syndrome 16
TMEM216 Joubert syndrome 2; Meckel syndrome 2
TMEM231 Joubert syndrome 20; Meckel syndrome 11
TMEM67 Joubert syndrome 6; Meckel syndrome 3; COACH syndrome;
Nephronophthisis 11
TMEM237 Joubert syndrome 14
TTC21B Short-rib thoracic dysplasia 4 with or without polydactyly;
Nephronophthisis 12
ZNF423 Joubert syndrome 19

List of diseases covered by Hereditary Spastic Paraplegia NGS panel

List of diseases covered by
Hereditary Spastic Paraplegia NGS panel

Gene Condition
ATL1 Spastic paraplegia 3A, autosomal dominant;
Neuropathy, hereditary sensory, type ID
AP4B1 Spastic paraplegia 47, autosomal recessive
AP4E1 Spastic paraplegia 51, autosomal recessive
AP4M1 Spastic paraplegia 50, autosomal recessive
AP4S1 Spastic paraplegia 52, autosomal recessive
AP5Z1 Spastic paraplegia 48, autosomal recessive
B4GALNT1 Spastic paraplegia 26, autosomal recessive
BSCL2 Encephalopathy, progressive, with or without lipodystrophy;
Lipodystrophy, congenital generalized, type 2;
Neuropathy, distal hereditary motor, type VA;
Silver spastic paraplegia syndrome
CYP7B1 Spastic paraplegia 5A, autosomal recessive;
CYP2U1 Spastic paraplegia 56, autosomal recessive
DDHD2 Spastic paraplegia 54, autosomal recessive
ERLIN2 Spastic paraplegia 18, autosomal recessive
FA2H Spastic paraplegia 35, autosomal recessive
GBA2 Spastic paraplegia 46, autosomal recessive
GJC2 Spastic paraplegia 44, autosomal recessive;
Leukodystrophy, hypomyelinating, 2; Lymphedema, hereditary, IC
HSPD1 Spastic paraplegia 13, autosomal dominant;
Leukodystrophy, hypomyelinating, 4
KIF1A Spastic paraplegia 30, autosomal recessive;
Mental retardation, autosomal dominant 9;
Neuropathy, hereditary sensory, type IIC
KIF5A Spastic paraplegia 10, autosomal dominant;
Amyotrophic lateral sclerosis, susceptibility to, 25;
Myoclonus, intractable, neonatal
L1CAM CRASH syndrome; Corpus callosum, partial agenesis of;
Hydrocephalus due to aqueductal stenosis
NIPA1 Spastic paraplegia 6, autosomal dominant
PLP1 Spastic paraplegia 2, X-linked; Pelizaeus-Merzbacher disease
PNPLA6 Spastic paraplegia 39, autosomal recessive;
Boucher-Neuhauser syndrome; Oliver-McFarlane syndrome
REEP1 Spastic paraplegia 31, autosomal dominant;
Neuronopathy, distal hereditary motor, type VB
RTN2 Spastic paraplegia 12, autosomal dominant
SLC16A2 Allan-Herndon-Dudley syndrome
SPAST Spastic paraplegia 4, autosomal dominant
SPG7 Spastic paraplegia 7, autosomal recessive
SPG11 Spastic paraplegia 11, autosomal recessive;
Amyotrophic lateral sclerosis 5, juvenile;
Charcot-Marie-Tooth disease, axonal, type 2X
SPG20 Troyer syndrome
SPG21 Mast syndrome
TECPR2 Spastic paraplegia 49, autosomal recessive
VPS37A Spastic paraplegia 53, autosomal recessive
WASHC5 Spastic paraplegia 8, autosomal dominant;
Ritscher-Schinzel syndrome 1
ZFYVE26 Spastic paraplegia 15, autosomal recessive

List of diseases covered by Epilepsy NGS panel

List of diseases covered by
Epilepsy NGS panel

Gene Condition
AARS Epileptic encephalopathy, early infantile, 29;
Charcot-Marie-Tooth disease, axonal, type 2N
ADAR Aicardi-Goutieres syndrome 6
ADSL Adenylosuccinase deficiency
ALDH7A1 Epilepsy, pyridoxine-dependent
ALG3 Congenital disorder of glycosylation, type Id
ALG13 Epileptic encephalopathy, early infantile, 36;
ARHGEF9 Epileptic encephalopathy, early infantile, 8
ARX Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2;
Mental retardation, X-linked 29 and others; Partington syndrome;
Proud syndrome
ATP1A2 Migraine, familial basilar; Alternating hemiplegia of childhood 1
ATP1A3 CAPOS syndrome; Dystonia-12; Alternating hemiplegia of childhood 2
ATP6AP2 Mental retardation, X-linked, syndromic, Hedera type;
Parkinsonism with spasticity, X-linked
ATRX Mental retardation-hypotonic facies syndrome, X-linked;
Alpha-thalassemia/mental retardation syndrome
BRAT1 Rigidity and multifocal seizure syndrome, lethal neonatal
CACNA1A Epileptic encephalopathy, early infantile, 42; Episodic ataxia, type 2;
Migraine, familial hemiplegic, 1; Spinocerebellar ataxia 6
CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities;
Sinoatrial node dysfunction and deafness
CACNA1H Epilepsy, childhood absence, susceptibility to, 6;
Hyperaldosteronism, familial, type IV
CACNB4 Episodic ataxia, type 5; Epilepsy, idiopathic generalized, susceptibility to, 9
CASK FG syndrome 4; Mental retardation, with or without nystagmus
CDKL5 Epileptic encephalopathy, early infantile, 2
CERS1 Epilepsy, progressive myoclonic, 8
CHD2 Epileptic encephalopathy, childhood-onset
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4
CHRNA4 Epilepsy, nocturnal frontal lobe, 1
CHRNB2 Epilepsy, nocturnal frontal lobe, 3
CLCN2 Leukoencephalopathy with ataxia;
Epilepsy, idiopathic generalized, susceptibility to, 11
CPA6 Epilepsy, familial temporal lobe, 5; Febrile seizures, familial, 11
CSTB Epilepsy, progressive myoclonic 1A
DEPDC5 Epilepsy, familial focal, with variable foci 1
DNM1 Epileptic encephalopathy, early infantile, 31
DOCK7 Epileptic encephalopathy, early infantile, 23
EEF1A2 Epileptic encephalopathy, early infantile, 33;
Mental retardation, autosomal dominant 38
EFHC1 Epilepsy, juvenile absence, susceptibility to, 1;
Myoclonic epilepsy, juvenile, susceptibility to, 1
EPM2A Epilepsy, progressive myoclonic 2A
FGF12 Epileptic encephalopathy, early infantile, 47
FLNA FG syndrome 2; Cardiac valvular dysplasia, X-linked;
Congenital short bowel syndrome; Frontometaphyseal dysplasia 1;
Heterotopia, periventricular; Melnick-Needles syndrome;
Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II;
Terminal osseous dysplasia
FOXG1 Rett syndrome, congenital variant
GABRA1 Epileptic encephalopathy, early infantile, 19;
Epilepsy, childhood absence, susceptibility to, 4
GABRB3 Epileptic encephalopathy, early infantile, 43;
Epilepsy, childhood absence, susceptibility to, 5
GABRD Epilepsy, idiopathic generalized, 10
GABRG2 Epilepsy, generalized, with febrile seizures plus, type 3;
Epilepsy, childhood absence, susceptibility to, 2
GAMT Cerebral creatine deficiency syndrome 2
GATM Cerebral creatine deficiency syndrome 3
GNAO1 Epileptic encephalopathy, early infantile, 17;
Neurodevelopmental disorder with involuntary movements
GOSR2 Epilepsy, progressive myoclonic 6;
GPHN Molybdenum cofactor deficiency C
GRIN1 Neurodevelopmental disorder with or without hyperkinetic
movements and seizures, autosomal dominant;
Neurodevelopmental disorder with or without hyperkinetic
movements and seizures, autosomal recessive
GRIN2A Epilepsy, focal, with speech disorder and with or
without mental retardation
GRIN2B Epileptic encephalopathy, early infantile, 27;
Mental retardation, autosomal dominant 6
HCN1 Epileptic encephalopathy, early infantile, 24
HUWE1 Mental retardation, X-linked syndromic, Turner type
ITPA Epileptic encephalopathy, early infantile, 35
IQSEC2 Mental retardation, X-linked 1/78
KCNA1 Episodic ataxia/myokymia syndrome
KCNA2 Epileptic encephalopathy, early infantile, 32
KCNB1 Epileptic encephalopathy, early infantile, 26
KCNC1 Epilepsy, progressive myoclonic 7
KCNMA1 Paroxysmal nonkinesigenic dyskinesia, 3,
with or without generalized epilepsy;
Cerebellar atrophy, developmental delay, and seizures
KCNQ2 Epileptic encephalopathy, early infantile, 7; Seizures, benign neonatal, 1
KCNQ3 Seizures, benign neonatal, 2
KCNT1 Epilepsy, nocturnal frontal lobe, 5;
Epileptic encephalopathy, early infantile, 14
KCTD7 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
KIAA2022 Mental retardation, X-linked 98
KIF1A Mental retardation, autosomal dominant 9;
Neuropathy, hereditary sensory, type IIC;
Spastic paraplegia 30, autosomal recessive
KIF5C Cortical dysplasia, complex, with other brain malformations 2
LGI1 Epilepsy, familial temporal lobe, 1
MBD5 Mental retardation, autosomal dominant 1
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency
MECP2 Encephalopathy, neonatal severe;
Mental retardation, X-linked syndromic, Lubs type;
Mental retardation, X-linked, syndromic 13; Rett syndrome
MEF2C Mental retardation, stereotypic movements, epilepsy,
and/or cerebral malformations
MOCS1 Molybdenum cofactor deficiency A
MOCS2 Molybdenum cofactor deficiency B
MTOR Smith-Kingsmore syndrome
NECAP1 Epileptic encephalopathy, early infantile, 21
NHLRC1 Epilepsy, progressive myoclonic 2B
NRXN1 Pitt-Hopkins-like syndrome 2
PCDH19 Epileptic encephalopathy, early infantile, 9
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIGA Multiple congenital anomalies-hypotonia-seizures syndrome 2
PIGO Hyperphosphatasia with mental retardation syndrome 2
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3
PLCB1 Epileptic encephalopathy, early infantile, 12
PNKP Microcephaly, seizures, and developmental delay;
Ataxia-oculomotor apraxia 4
PNPO Pyridoxamine 5′-phosphate oxidase deficiency
POLG Mitochondrial DNA depletion syndrome 4A;
Mitochondrial DNA depletion syndrome 4B;
Mitochondrial recessive ataxia syndrome;
Progressive external ophthalmoplegia, autosomal dominant 1;
Progressive external ophthalmoplegia, autosomal recessive 1
PRICKLE1 Epilepsy, progressive myoclonic 1B
PRRT2 Seizures, benign familial infantile, 2;
Episodic kinesigenic dyskinesia 1;
Convulsions, familial infantile, with paroxysmal choreoathetosis
PURA Mental retardation, autosomal dominant 31
RELN Lissencephaly 2; Epilepsy, familial temporal lobe, 7
ROGDI Kohlschutter-Tonz syndrome
SCARB2 Epilepsy, progressive myoclonic 4, with or without renal failure
SCN1A Epilepsy, generalized, with febrile seizures plus, type 2;
Epileptic encephalopathy, early infantile, 6;
Migraine, familial hemiplegic, 3
SCN1B Epilepsy, generalized, with febrile seizures plus, type 1;
Epileptic encephalopathy, early infantile, 52
SCN2A Epileptic encephalopathy, early infantile, 11;
Seizures, benign familial infantile, 3
SCN8A Epileptic encephalopathy, early infantile, 13;
Seizures, benign familial infantile, 5;
Cognitive impairment with or without cerebellar ataxia
SERPINI1 Encephalopathy, familial, with neuroserpin inclusion bodies
SIK1 Epileptic encephalopathy, early infantile, 30
SLC12A5 Epileptic encephalopathy, early infantile, 34;
Epilepsy, idiopathic generalized, susceptibility to, 14
SLC13A5 Epileptic encephalopathy, early infantile, 25
SLC25A22 Epileptic encephalopathy, early infantile, 3
SLC2A1 GLUT1 deficiency syndrome 1, infantile onset, severe;
GLUT1 deficiency syndrome 2, childhood onset;
Stomatin-deficient cryohydrocytosis with neurologic defects;
Dystonia 9; Epilepsy, idiopathic generalized, susceptibility to, 12
SLC35A2 Congenital disorder of glycosylation, type IIm
SLC35A3 Arthrogryposis, mental retardation, and seizures
SLC6A1 Myoclonic-atonic epilepsy
SLC6A8 Cerebral creatine deficiency syndrome 1
SLC9A6 Mental retardation, X-linked syndromic, Christianson type
SMARCA2 Nicolaides-Baraitser syndrome
SNIP1 Psychomotor retardation, epilepsy, and craniofacial dysmorphism
SPATA5 Epilepsy, hearing loss, and mental retardation syndrome
SPTAN1 Epileptic encephalopathy, early infantile, 5
SRPX2 Rolandic epilepsy, mental retardation, and speech dyspraxia
ST3GAL3 Epileptic encephalopathy, early infantile, 15;
Mental retardation, autosomal recessive 12
ST3GAL5 Salt and pepper developmental regression syndrome
STX1B Generalized epilepsy with febrile seizures plus, type 9
STXBP1 Epileptic encephalopathy, early infantile, 4
SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders
SYNGAP1 Mental retardation, autosomal dominant 5
SYP Mental retardation, X-linked 96
SZT2 Epileptic encephalopathy, early infantile, 18
TBC1D24 Epileptic encephalopathy, early infantile, 16;
Myoclonic epilepsy, infantile, familial; DOORS syndrome
TCF4 Pitt-Hopkins syndrome
TSC1 Tuberous sclerosis-1
TSC2 Tuberous sclerosis-2
TUBB3 Cortical dysplasia, complex, with other brain malformations 1;
Fibrosis of extraocular muscles, congenital, 3A
UBE3A Angelman syndrome
WDR45 Neurodegeneration with brain iron accumulation 5
WWOX Epileptic encephalopathy, early infantile, 28;
Spinocerebellar ataxia, autosomal recessive 12
ZDHHC9 Mental retardation, X-linked syndromic, Raymond type

List of diseases covered by Frontotemporal Dementia NGS panel

List of diseases covered by
Frontotemporal Dementia NGS panel

Gene Condition
CHMP2B Dementia, familial, nonspecific; Amyotrophic lateral sclerosis 17
GRN Frontotemporal lobar degeneration with ubiquitin-positive inclusions;
Ceroid lipofuscinosis, neuronal, 11
MAPT Dementia, frontotemporal, with or without parkinsonism; Pick disease;
Supranuclear palsy, progressive; Supranuclear palsy, progressive atypical
TARDBP Frontotemporal lobar degeneration, TARDBP-related;
Amyotrophic lateral sclerosis 10, with or without FTD
PSEN1 Alzheimer disease, type 3, with spastic paraparesis and apraxia;
Dementia, frontotemporal; Pick disease; Cardiomyopathy, dilated, 1U

List of diseases covered by Dystonia NGS panel

List of diseases covered by
Dystonia NGS panel

Gene Condition
ACTB Dystonia, juvenile-onset; Baraitser-Winter syndrome 1
ADCY5 Dyskinesia, familial, with facial myokymia
ANO3 Dystonia 24
ARSA Metachromatic leukodystrophy
ATM Ataxia-telangiectasia
ATP1A3 Dystonia-12; Alternating hemiplegia of childhood 2; CAPOS syndrome
ATP7B Wilson disease
CACNA1B Dystonia 23
COL6A3 Dystonia 27; Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1
GCDH Glutaricaciduria, type I
GCH1 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia;
Hyperphenylalaninemia, BH4-deficient, B
GNAL Dystonia 25
GNAO1 Neurodevelopmental disorder with involuntary movements;
Epileptic encephalopathy, early infantile, 17
HPCA Dystonia 2, torsion, autosomal recessive
KCNMA1 Cerebellar atrophy, developmental delay, and seizures;
Paroxysmal nonkinesigenic dyskinesia, 3,
with or without generalized epilepsy
KCTD17 Dystonia 26, myoclonic
PANK2 HARP syndrome; Neurodegeneration with brain iron accumulation 1
PLA2G6 Infantile neuroaxonal dystrophy 1;
Neurodegeneration with brain iron accumulation 2B;
Parkinson disease 14, autosomal recessive
PNKD Paroxysmal nonkinesigenic dyskinesia 1
PRKN Parkinson disease, juvenile, type 2
PRKRA Dystonia 16
PRRT2 Episodic kinesigenic dyskinesia 1;
Convulsions, familial infantile, with paroxysmal choreoathetosis;
Seizures, benign familial infantile, 2
RELN Lissencephaly 2 (Norman-Roberts type); Epilepsy, familial temporal lobe, 7
SGCE Dystonia-11, myoclonic
SLC2A1 Dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe;
GLUT1 deficiency syndrome 2, childhood onset;
Stomatin-deficient cryohydrocytosis with neurologic defects;
Epilepsy, idiopathic generalized, susceptibility to, 12
SLC6A3 Parkinsonism-dystonia, infantile
SLC25A1 Combined D-2- and L-2-hydroxyglutaric aciduria
SLC30A10 Hypermanganesemia with dystonia 1
SLC39A14 Hypermanganesemia with dystonia 2
SPR Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
TAF1 Dystonia-Parkinsonism, X-linked;
Mental retardation, X-linked, syndromic 33
TBCE Encephalopathy, progressive,
with amyotrophy and optic atrophy;
Hypoparathyroidism-retardation-dysmorphism syndrome;
Kenny-Caffey syndrome, type 1
TH Segawa syndrome, recessive
THAP1 Dystonia 6, torsion
TIMM8A Mohr-Tranebjaerg syndrome
TOR1A Dystonia-1, torsion
TUBB4A Dystonia 4, torsion, autosomal dominant;
Leukodystrophy, hypomyelinating, 6

List of diseases covered by Cornelia de Lange Syndrome NGS panel

List of diseases covered by
Cornelia de Lange Syndrome NGS panel

Gene Condition
AFF4 CHOPS syndrome
ANKRD11 KBG syndrome
HDAC8 Cornelia de Lange syndrome 5
KMT2A Wiedemann-Steiner syndrome
NIPBL Cornelia de Lange syndrome 1
RAD21 Cornelia de Lange syndrome 4
SMC3 Cornelia de Lange syndrome 3
SMC1A Cornelia de Lange syndrome 2
TAF6 Alazami-Yuan syndrome

List of diseases covered by Parkinson Disease NGS panel

List of diseases covered by
Parkinson’s Disease NGS panel

Gene Condition
ADH1C Parkinson disease, susceptibility to
ATP13A2 Parkinson disease 9;
Spastic paraplegia 78, autosomal recessive
ATP6AP2 Parkinsonism with spasticity, X-linked;
Mental retardation, X-linked, syndromic, Hedera type
ATXN2 Parkinson disease, late-onset, susceptibility to;
Spinocerebellar ataxia 2
DNAJC6 Parkinson disease 19a, juvenile-onset
EIF4G1 Parkinson disease 18
FBXO7 Parkinson disease 15, autosomal recessive
GBA Parkinson disease, late-onset, susceptibility to;
Lewy body dementia, susceptibility to; Gaucher disease, type I;
Gaucher disease, type II; Gaucher disease, type III; Gaucher disease, type IIIc;
Gaucher disease, perinatal lethal
GIGYF2 Parkinson disease 11
HTRA2 Parkinson disease 13;
3-methylglutaconic aciduria, type VIII
LRRK2 Parkinson disease 8
MAPT Dementia, frontotemporal, with or without parkinsonism;
Parkinson disease, susceptibility to; Pick disease;
Supranuclear palsy, progressive; Supranuclear palsy, progressive atypical
PARK7 Parkinson disease 7, autosomal recessive early-onset
PINK1 Parkinson disease 6, early onset
PLA2G6 Parkinson disease 14, autosomal recessive;
Neurodegeneration with brain iron accumulation 2B;
Infantile neuroaxonal dystrophy 1
PRKN Parkinson disease, juvenile, type 2
SLC6A3 Parkinsonism-dystonia, infantile
SNCA Parkinson disease 1; Parkinson disease 4;
Dementia, Lewy body
SNCB Dementia, Lewy body
TBP Parkinson disease, susceptibility to;
Spinocerebellar ataxia 17
UCHL1 Parkinson disease 5, susceptibility to;
Spastic paraplegia 79, autosomal recessive
VPS35 Parkinson disease 17

List of diseases covered by Usher Syndrome NGS panel

List of diseases covered by Usher Syndrome NGS panel

Gene Condition
ABHD12 Polyneuropathy, hearing loss,
ataxia, retinitis pigmentosa, and cataract
ADGRV1 Usher syndrome, type 2C
CDH23 Usher syndrome, type 1D;
Deafness, autosomal recessive 12
CIB2 Usher syndrome, type IJ;
Deafness, autosomal recessive 48
CLRN1 Usher syndrome, type 3A;
Retinitis pigmentosa 61
COL4A6 Deafness, X-linked 6
DSPP Deafness, autosomal dominant 39,
with dentinogenesis
GIPC3 Deafness, autosomal recessive 15
HARS Usher syndrome type 3B
KARS Deafness, autosomal recessive 89
LHFPL5 Deafness, autosomal recessive 67
LOXHD1 Deafness, autosomal recessive 77
MYO7A Usher syndrome, type 1B;
Deafness, autosomal recessive 2; Deafness, autosomal dominant 11
PCDH15 Usher syndrome, type 1F;
Usher syndrome, type 1D/F digenic;
Deafness, autosomal recessive 23
PDZD7 Usher syndrome, type IIC, GPR98/PDZD7 digenic
TNC Deafness, autosomal dominant 56
USH2A Usher syndrome, type 2A; Retinitis pigmentosa 39
USH1C Usher syndrome, type 1C;
Deafness, autosomal recessive 18A
USH1G Usher syndrome, type 1G
WHRN Usher syndrome, type 2D;
Deafness, autosomal recessive 31

List of diseases covered by Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS panel

List of diseases covered by Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS panel

Gene Condition
AP3B1 Hermansky-Pudlak syndrome 2
BLOC1S3 Hermansky-Pudlak syndrome 8
BLOC1S6 Hermansky-pudlak syndrome 9
DTNBP1 Hermansky-Pudlak syndrome 7
GPR143 Nystagmus 6, congenital, X-linked;
Ocular albinism, type I, Nettleship-Falls type
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
LRMDA Albinism, oculocutaneous, type VII
LYST Chediak-Higashi syndrome
OCA2 Albinism, oculocutaneous, type II
SLC24A5 Albinism, oculocutaneous, type VI
SLC45A2 Albinism, oculocutaneous, type IV
TYR Albinism, oculocutaneous, type IA;
Albinism, oculocutaneous, type IB;
Waardenburg syndrome/albinism, digenic
TYRP1 Albinism, oculocutaneous, type III

List of diseases covered by Corneal Dystrophy NGS panel

List of diseases covered by
Corneal Dystrophy NGS panel

Gene Condition
CHST6 Macular corneal dystrophy
COL5A1 Ehlers-Danlos syndrome, classic type, 1
COL17A1 Epithelial recurrent erosion dystrophy
COL8A2 Corneal dystrophy, Fuchs endothelial, 1;
Corneal dystrophy, posterior polymorphous 2
CYP4V2 Bietti crystalline corneoretinal dystrophy
DCN Corneal dystrophy, congenital stromal
GSN Amyloidosis, Finnish type
KRT3 Meesmann corneal dystrophy
KRT12 Meesmann corneal dystrophy
LOXHD1 Deafness, autosomal recessive 77
PIKFYVE Corneal fleck dystrophy
PRDM5 Brittle cornea syndrome 2
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4;
Corneal endothelial dystrophy and perceptive deafness;
Corneal endothelial dystrophy, autosomal recessive
SOD1 Amyotrophic lateral sclerosis 1
ZEB1 Corneal dystrophy, Fuchs endothelial, 6;
Corneal dystrophy, posterior polymorphous, 3
ZNF469 Brittle cornea syndrome 1
TACSTD2 Corneal dystrophy, gelatinous drop-like
TGFBI Corneal dystrophy, Avellino type;
Corneal dystrophy, epithelial basement membrane;
Corneal dystrophy, Groenouw type I;
Corneal dystrophy, lattice type I; Corneal dystrophy, lattice type IIIA;
Corneal dystrophy, Reis-Bucklers type;
Corneal dystrophy, Thiel-Behnke type
UBIAD1 Corneal dystrophy, Schnyder type
VSX1 Keratoconus 1