Updates in Asper Ophthalmics

Asper Ophthalmics testing menu has been updated with Senior-Loken Syndrome gene panel. We have also added a number of genes to Cone-Rod Dystrophy, Vitelliform Macular Dystrophy, and comprehensive eye diseases panels. Comprehensive eye diseases panel now covers 283 genes associated with different eye disorders. View updated testing options at www.asperbio.com/asper-ophthalmics/

List of diseases covered by Senior-Loken Syndrome NGS panel

List of diseases covered by
Senior-Loken Syndrome NGS panel

Gene Condition
CEP290 Senior-Loken syndrome 6; Joubert syndrome 5;
Leber congenital amaurosis 10;
Meckel syndrome 4; Bardet-Biedl syndrome 14
INVS Nephronophthisis 2, infantile
IQCB1 Senior-Loken syndrome 5
NPHP1 Senior-Loken syndrome-1; Joubert syndrome 4;
Nephronophthisis 1, juvenile
NPHP3 Nephronophthisis 3; Meckel syndrome 7;
Renal-hepatic-pancreatic dysplasia 1
NPHP4 Senior-Loken syndrome 4
SDCCAG8 Senior-Loken syndrome 7; Bardet-Biedl syndrome 16
TRAF3IP1 Senior-Loken syndrome 9
WDR19 Senior-Loken syndrome 8; Nephronophthisis 13

Senior-Loken Syndrome

Senior-Loken Syndrome NGS panel

Genes: CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19

List of diseases covered by the panel


Price / TAT: 1070 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Ehlers-Danlos Syndrome NGS panel

Ehlers-Danlos Syndrome NGS panel

Genes
(full
coding region):
ADAMTS2, AEBP1, ALDH18A1, ATP7A, ATP6V0A2, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, C1R, C1S, GORAB, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, FLNA, LTBP4, PLOD1, PRDM5, PYCR1, SLC39A13, RIN2, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, ZNF469

List of diseases covered by the panel


Price / TAT: 1070 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

 

List of diseases covered by Maturity Onset Diabetes of the Young (MODY) NGS panel

List of diseases covered by
Maturity Onset Diabetes of the Young (MODY)
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
BLK Maturity-onset diabetes of the young, type 11
CEL Maturity-onset diabetes of the young, type VIII
GCK Diabetes mellitus, noninsulin-dependent, late onset;
Diabetes mellitus, permanent neonatal;
Hyperinsulinemic hypoglycemia, familial, 3; MODY, type II
HNF1A Diabetes mellitus, insulin-dependent, 20;
MODY, type III; Renal cell carcinoma; Diabetes mellitus, insulin-dependent;
Diabetes mellitus, noninsulin-dependent, 2
HNF4A MODY, type I;
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young;
Diabetes mellitus, noninsulin-dependent
HNF1B Diabetes mellitus, noninsulin-dependent;
Renal cysts and diabetes syndrome; Renal cell carcinoma
INS Diabetes mellitus, insulin-dependent, 2;
Diabetes mellitus, permanent neonatal; Hyperproinsulinemia;
Maturity-onset diabetes of the young, type 10
KCNJ11 Diabetes mellitus, transient neonatal, 3;
Diabetes, permanent neonatal, with or without neurologic features;
Hyperinsulinemic hypoglycemia, familial, 2;
Maturity-onset diabetes of the young, type 13;
Diabetes mellitus, type 2, susceptibility to
KLF11 Maturity-onset diabetes of the young, type VII2
NEUROD1 Maturity-onset diabetes of the young 6;
Diabetes mellitus, noninsulin-dependent
PAX4 Diabetes mellitus, type 2;
Maturity-onset diabetes of the young, type IX;
Diabetes mellitus, ketosis-prone, susceptibility to
PDX1 MODY, type IV; Pancreatic agenesis 1;
Diabetes mellitus, type II, susceptibility to
RFX6 Mitchell-Riley syndrome
ZFP57 Diabetes mellitus, transient neonatal, 1

List of diseases covered by Hypothyroidism and Thyroid Hormone Resistance NGS panel

List of diseases covered by
Hypothyroidism and Thyroid Hormone Resistance
NGS panel

Gene Condition
DUOX2 Thyroid dyshormonogenesis 6
DUOXA2 Thyroid dyshormonogenesis 5
GNAS McCune-Albright syndrome;
ACTH-independent macronodular adrenal hyperplasia;
Pseudohypoparathyroidism Ia; Pseudohypoparathyroidism Ib;
Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism;
Osseous heteroplasia, progressive
HESX1 Pituitary hormone deficiency, combined, 5
IYD Thyroid dyshormonogenesis 4
NKX2-1 Choreoathetosis, hypothyroidism,
and neonatal respiratory distress;
Chorea, hereditary benign; Thyroid cancer, nonmedullary, 1
NKX2-5 Hypothyroidism, congenital nongoitrous, 5;
Atrial septal defect 7, with or without AV conduction defects;
Conotruncal heart malformations, variable; Hypoplastic left heart syndrome 2;
Tetralogy of Fallot; Ventricular septal defect 3
PAX8 Hypothyroidism, congenital,
due to thyroid dysgenesis or hypoplasia
POU1F1 Pituitary hormone deficiency, combined, 1
PROP1 Pituitary hormone deficiency, combined, 2
SECISBP2 Thyroid hormone metabolism, abnormal
SLC5A5 Thyroid dyshormonogenesis 1
SLC16A2 Allan-Herndon-Dudley syndrome
SLC26A4 Pendred syndrome;
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
TG Thyroid dyshormonogenesis 3;
Autoimmune thyroid disease, susceptibility to, 3
THRA Hypothyroidism, congenital, nongoitrous, 6
THRB Thyroid hormone resistance;
Thyroid hormone resistance, autosomal recessive;
Thyroid hormone resistance, selective pituitary
TPO Thyroid dyshormonogenesis 2A
TRHR Thyrotropin-releasing hormone resistance, generalized
TSHB Hypothyroidism, congenital, nongoitrous 4
TSHR Hyperthyroidism, familial gestational;
Hyperthyroidism, nonautoimmune; Hypothyroidism, congenital, nongoitrous, 1

List of diseases covered by Combined Pituitary Hormone Deficiency NGS panel

List of diseases covered by
Combined Pituitary Hormone Deficiency NGS panel

Gene Condition
HESX1 Pituitary hormone deficiency, combined, 5
LHX3 Pituitary hormone deficiency, combined, 3
LHX4 Pituitary hormone deficiency, combined, 4
OTX2 Pituitary hormone deficiency, combined, 6;
Retinal dystrophy, early-onset, with or without pituitary dysfunction
POU1F1 Pituitary hormone deficiency, combined, 1
PROP1 Pituitary hormone deficiency, combined, 2

List of diseases covered by Thyroid Dyshormonogenesis NGS panel

List of diseases covered by
Thyroid Dyshormonogenesis NGS panel

Gene Condition
DUOX2 Thyroid dyshormonogenesis 6
DUOXA2 Thyroid dyshormonogenesis 5
IYD Thyroid dyshormonogenesis 4
SLC5A5 Thyroid dyshormonogenesis 1
TG Thyroid dyshormonogenesis 3;
Autoimmune thyroid disease, susceptibility to, 3
TPO Thyroid dyshormonogenesis 2A

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 Zellweger Spectrum Disorders NGS panel

List of diseases covered by
Zellweger Spectrum Disorders NGS panel

Gene Condition
PEX1 Peroxisome biogenesis disorder 1A (Zellweger);
Peroxisome biogenesis disorder 1B (NALD/IRD); Heimler syndrome 1
PEX2 Peroxisome biogenesis disorder 5A (Zellweger);
Peroxisome biogenesis disorder 5B
PEX3 Peroxisome biogenesis disorder 10B;
Peroxisome biogenesis disorder 10A (Zellweger)
PEX5 Peroxisome biogenesis disorder 2A (Zellweger);
Peroxisome biogenesis disorder 2B;
Rhizomelic chondrodysplasia punctata, type 5
PEX6 Peroxisome biogenesis disorder 4A (Zellweger);
Peroxisome biogenesis disorder 4B; Heimler syndrome 2
PEX7 Peroxisome biogenesis disorder 9B;
Rhizomelic chondrodysplasia punctata, type 1
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
PHYH Refsum disease

List of diseases covered by Waardenburg Syndrome NGS panel

List of diseases covered by
Waardenburg Syndrome NGS panel

Gene Condition
EDN3 Waardenburg syndrome, type 4B
EDNRB Waardenburg syndrome, type 4A; ABCD syndrome
MITF Waardenburg syndrome, type 2A;
Waardenburg syndrome/ocular albinism, digenic; COMMAD syndrome;
Tietz albinism-deafness syndrome
PAX3 Waardenburg syndrome, type 1; Waardenburg syndrome, type 3;
Craniofacial-deafness-hand syndrome; Rhabdomyosarcoma 2, alveolar
SNAI2 Waardenburg syndrome, type 2D; Piebaldism
SOX10 Waardenburg syndrome, type 2E, with or without neurologic involvement;
Waardenburg syndrome, type 4C; PCWH syndrome

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 Stickler Syndrome NGS panel

List of diseases covered by
Stickler Syndrome NGS panel

Gene Condition
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
COL9A1 Stickler syndrome, type IV; Epiphyseal dysplasia, multiple, 6
COL9A2 Stickler syndrome, type V; Epiphyseal dysplasia, multiple, 2
COL9A3 Epiphyseal dysplasia, multiple, 3, with or without myopathy
COL11A1 Stickler syndrome, type II; Fibrochondrogenesis 1; Marshall syndrome
COL11A2 Deafness, autosomal dominant 13;
Deafness, autosomal recessive 53; Fibrochondrogenesis 2;
Otospondylomegaepiphyseal dysplasia, autosomal dominant;
Otospondylomegaepiphyseal dysplasia, autosomal recessive

List of diseases covered by Sensorineural Hearing loss NGS panel

List of diseases covered by 
Sensorineural Hearing loss NGS panel

Gene Condition
ACTG1 Deafness, autosomal dominant 20/26; Baraitser-Winter syndrome 2
ADGRV1 Usher syndrome, type 2C, GPR98/PDZD7 digenic;
Febrile seizures, familial, 4
ATP2B2 Deafness, autosomal recessive 12, modifier of
ATP6V1B1 Renal tubular acidosis with deafness
BSND Sensorineural deafness with mild renal dysfunction
CCDC50 Deafness, autosomal dominant 44
CDH23 Usher syndrome, type 1D;
Deafness, autosomal recessive 12
CEACAM16 Deafness, autosomal dominant 4B
CIB2 Usher syndrome, type IJ;
Deafness, autosomal recessive 48
CLDN14 Deafness, autosomal recessive 29
CLRN1 Usher syndrome, type 3A;
Retinitis pigmentosa 61
COCH Deafness, autosomal dominant 9
COL11A2 Deafness, autosomal dominant 13;
Deafness, autosomal recessive 53; Fibrochondrogenesis 2;
Otospondylomegaepiphyseal dysplasia, autosomal dominant;
Otospondylomegaepiphyseal dysplasia, autosomal recessive
CRYM Deafness, autosomal dominant 40
DFNA5 Deafness, autosomal dominant 5
DFNB31 Deafness, autosomal recessive 31
DFNB59 Deafness, autosomal recessive 59
DIABLO Deafness, autosomal dominant 64
DIAPH1 Deafness, autosomal dominant 1;
Seizures, cortical blindness, microcephaly syndrome
DIAPH3 Auditory neuropathy, autosomal dominant, 1
ESPN Deafness, autosomal recessive 36
ESRRB Deafness, autosomal recessive 35
EYA4 Deafness, autosomal dominant 10
FOXI1 Enlarged vestibular aqueduct
GIPC3 Deafness, autosomal recessive 15
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
GJB3 Deafness, autosomal dominant 2B; Deafness, digenic, GJB2/GJB3;
Erythrokeratodermia variabilis et progressiva 1
GJB6 Deafness, autosomal dominant 3B;
Deafness, autosomal recessive 1B; Deafness, digenic GJB2/GJB6;
Ectodermal dysplasia 2, Clouston type
GPSM2 Chudley-McCullough syndrome
GRHL2 Deafness, autosomal dominant 28;
Corneal dystrophy, posterior polymorphous, 4;
Ectodermal dysplasia/short stature syndrome
GRXCR1 Deafness, autosomal recessive 25
HGF Deafness, autosomal recessive 39
ILDR1 Deafness, autosomal recessive 42
KCNJ10 Enlarged vestibular aqueduct, digenic; SESAME syndrome
KCNQ4 Deafness, autosomal dominant 2A
LHFPL5 Deafness, autosomal recessive 67
LOXHD1 Deafness, autosomal recessive 77
LRTOMT Deafness, autosomal recessive 63
MARVELD2 Deafness, autosomal recessive 49
MIR96 Deafness, autosomal dominant 50
MSRB3 Deafness, autosomal recessive 74
MYH14 Deafness, autosomal dominant 4A;
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
MYH9 Deafness, autosomal dominant 17;
Macrothrombocytopenia and granulocyte inclusions
with or without nephritis or sensorineural hearing loss
MYO15A Deafness, autosomal recessive 3
MYO3A Deafness, autosomal recessive 30
MYO6 Deafness, autosomal dominant 22;
Deafness, autosomal recessive 37
MYO7A Usher syndrome, type 1B;
Deafness, autosomal recessive 2; Deafness, autosomal dominant 11
OTOA Deafness, autosomal recessive 22
OTOF Deafness, autosomal recessive 9
PCDH15 Usher syndrome, type 1F;
Usher syndrome, type 1D/F digenic;
Deafness, autosomal recessive 23
PDZD7 Usher syndrome, type IIC, GPR98/PDZD7 digenic
POU3F4 Deafness, X-linked 2
POU4F3 Deafness, autosomal dominant 15
PRPS1 Deafness, X-linked 1;
Charcot-Marie-Tooth disease, X-linked recessive, 5; Arts syndrome; Gout,
PRPS-related
PTPRQ Deafness, autosomal dominant 73;
Deafness, autosomal recessive 84A
RDX Deafness, autosomal recessive 24
SERPINB6 Deafness, autosomal recessive 91
SIX1 Deafness, autosomal dominant 23;
Branchiootic syndrome 3
SLC17A8 Deafness, autosomal dominant 25
SLC26A4 Deafness, autosomal recessive 4,
with enlarged vestibular aqueduct; Pendred syndrome
SLC26A5 Deafness, autosomal recessive 61
SMPX Deafness, X-linked 4
STRC Deafness, autosomal recessive 16
TECTA Deafness, autosomal dominant 8/12;
Deafness, autosomal recessive 21
TJP2 Cholestasis, progressive familial intrahepatic 4;
Hypercholanemia, familial
TMC1 Deafness, autosomal dominant 36;
Deafness, autosomal recessive 7
TMIE Deafness, autosomal recessive 6
TMPRSS3 Deafness, autosomal recessive 8/10
TPRN Deafness, autosomal recessive 79
TRIOBP Deafness, autosomal recessive 28
TRMU Deafness, mitochondrial, modifier of;
Liver failure, transient infantile
USH2A Usher syndrome, type 2A; Retinitis pigmentosa 39
USH1C Usher syndrome, type 1C;
Deafness, autosomal recessive 18A
USH1G Usher syndrome, type 1G
WFS1 Deafness, autosomal dominant 6/14/38; Cataract 41;
Wolfram syndrome 1; Wolfram-like syndrome, autosomal dominant;
Diabetes mellitus, noninsulin-dependent, association with

List of diseases covered by Long QT Syndrome NGS panel

List of diseases covered by Long QT Syndrome
NGS panel

Gene Condition
AKAP9 Long QT syndrome 11
ANK2 Cardiac arrhythmia, ankyrin B-related
CACNA1C Brugada syndrome 3
CALM1 Long QT syndrome 14;
Ventricular tachycardia, catecholaminergic polymorphic, 4
CAV3 Familial hypertrophic cardiomyopathy 1; Long QT syndrome 9
KCNE1 Long QT syndrome 5;
Jervell and Lange-Nielsen syndrome 2
KCNE2 Atrial fibrillation, familial, 4;
Long QT syndrome 6
KCNJ2 Andersen Tawil syndrome;
Atrial fibrillation, familial, 9; Short QT syndrome 3
KCNJ5 Long QT syndrome 13; Hyperaldosteronism, familial, type III
KCNQ1 Atrial fibrillation, familial, 3;
Jervell and Lange-Nielsen syndrome 1; Long QT syndrome 1;
Short QT syndrome 2
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
SCN4B Long QT syndrome-10
SNTA1 Long QT syndrome 12

List of diseases covered by Hypertrophic Cardiomyopathy NGS panel

List of diseases covered by
Hypertrophic Cardiomyopathy NGS panel

Gene Condition
ACTC1 Atrial septal defect 5; Cardiomyopathy, dilated, 1R;
Cardiomyopathy, hypertrophic, 11
ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC
AGK Sengers syndrome; Cataract 38, autosomal recessive
CALR3 Cardiomyopathy, hypertrophic, 19
CAV3 Familial hypertrophic cardiomyopathy 1; Long QT syndrome 9
CRYAB Cardiomyopathy, dilated, 1II; Cataract 16, multiple types;
Myopathy, myofibrillar, 2;
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related
CSRP3 Cardiomyopathy, dilated, 1M; Cardiomyopathy, hypertrophic, 12
FLNC Cardiomyopathy, familial restrictive 5; Myopathy, distal, 4;
Myopathy, myofibrillar, 5
GLA Fabry disease, cardiac variant
JPH2 Cardiomyopathy, hypertrophic, 17
LAMP2 Danon disease
LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC;
Myopathy, myofibrillar, 4
MYBPC3 Cardiomyopathy, dilated, 1MM; Cardiomyopathy, hypertrophic, 4
MYH6 Atrial septal defect 3; Cardiomyopathy, dilated, 1EE;
Cardiomyopathy, hypertrophic, 14
MYH7 Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1;
Laing distal myopathy; Myopathy, myosin storage, autosomal dominant;
Myopathy, myosin storage, autosomal recessive;
Scapuloperoneal syndrome, myopathic type
MYL2 Cardiomyopathy, hypertrophic, 10
MYL3 Cardiomyopathy, hypertrophic, 8
MYLK2 Cardiomyopathy, hypertrophic, 1, digenic
MYOZ2 Cardiomyopathy, hypertrophic, 16
MYPN Cardiomyopathy, dilated, 1KK;
Nemaline myopathy 11, autosomal recessive
NEXN Cardiomyopathy, dilated, 1CC; Cardiomyopathy, hypertrophic, 20
PLN Dilated cardiomyopathy 1P; Familial hypertrophic cardiomyopathy 18
PRKAG2 Cardiomyopathy, hypertrophic 6;
Glycogen storage disease of heart, lethal congenital;
Wolff-Parkinson-White syndrome
RAF1 Cardiomyopathy, dilated, 1NN; LEOPARD syndrome 2; Noonan syndrome 5
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
SOS1 Noonan syndrome 4;
TCAP Cardiomyopathy, hypertrophic, 25;
Muscular dystrophy, limb-girdle, type 2G
TNNC1 Cardiomyopathy, dilated, 1Z; Cardiomyopathy, hypertrophic, 13
TNNI3 Cardiomyopathy, dilated, 2A; Cardiomyopathy, dilated, 1FF;
Cardiomyopathy, familial restrictive, 1; Cardiomyopathy, hypertrophic, 7
TNNT2 Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial restrictive, 3;
Cardiomyopathy, hypertrophic, 2
TPM1 Cardiomyopathy, dilated, 1Y; Cardiomyopathy, hypertrophic, 3
TTN Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9;
Muscular dystrophy, limb-girdle, type 2J;
Myopathy, proximal, with early respiratory muscle involvement;
Salih myopathy; Tibial muscular dystrophy, tardive
TTR Amyloidosis, hereditary, transthyretin-related;
Carpal tunnel syndrome, familial
VCL Cardiomyopathy, dilated, 1W; Cardiomyopathy, hypertrophic, 15

List of diseases covered by Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes NGS panel

List of diseases covered by
Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes
NGS panel

Gene Condition
ACTA2 Aortic aneurysm, familial thoracic 6; Moyamoya disease 5;
Multisystemic smooth muscle dysfunction syndrome
COL3A1 Ehlers-Danlos syndrome, vascular type
COL5A1 Ehlers-Danlos syndrome, classic type, 1
FBN1 Marfan syndrome; Marfan lipodystrophy syndrome; MASS syndrome;
Acromicric dysplasia; Ectopia lentis, familial; Geleophysic dysplasia 2;
Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant
MYH11 Aortic aneurysm, familial thoracic 4
MYLK Aortic aneurysm, familial thoracic 7
TGFB2 Loeys-Dietz syndrome 4
TGFBR1 Loeys-Dietz syndrome 1
TGFBR2 Loeys-Dietz syndrome 2

List of diseases covered by Dilated Cardiomyopathy NGS panel

List of diseases covered by
Dilated Cardiomyopathy NGS panel

Gene Condition
ABCC9 Atrial fibrillation, familial, 12; Dilated cardiomyopathy 1O
ACTC1 Atrial septal defect 5; Cardiomyopathy, dilated, 1R;
Cardiomyopathy, hypertrophic, 11
ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC
BAG3 Cardiomyopathy, dilated, 1HH; Myopathy, myofibrillar, 6
CSRP3 Cardiomyopathy, dilated, 1M; Cardiomyopathy, hypertrophic, 12
CRYAB Cardiomyopathy, dilated, 1II; Cataract 16, multiple types;
Myopathy, myofibrillar, 2; Myopathy, myofibrillar, fatal infantile hypertonic,
alpha-B crystallin-related
DES Dilated cardiomyopathy 1I
DMD Becker muscular dystrophy; Cardiomyopathy, dilated, 3B;
Duchenne muscular dystrophy
DNAJC19 3-methylglutaconic aciduria, type V
DOLK Congenital disorder of glycosylation, type Im
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
EMD Emery-Dreifuss muscular dystrophy 1, X-linked
EYA4 Cardiomyopathy, dilated, 1J; Deafness, autosomal dominant 10
GATAD1 Cardiomyopathy, dilated, 2B
JUP Arrhythmogenic right ventricular cardiomyopathy, type 12;
Naxos disease
LAMA4 Cardiomyopathy, dilated, 1JJ
LAMP2 Danon 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
MYBPC3 Cardiomyopathy, dilated, 1MM; Cardiomyopathy, hypertrophic, 4
MYH6 Atrial septal defect 3; Cardiomyopathy, dilated, 1EE;
Cardiomyopathy, hypertrophic, 14
MYH7 Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1;
Laing distal myopathy; Myopathy, myosin storage, autosomal dominant;
Myopathy, myosin storage, autosomal recessive;
Scapuloperoneal syndrome, myopathic type
MYPN Cardiomyopathy, dilated, 1KK; Nemaline myopathy 11, autosomal recessive
NEXN Cardiomyopathy, dilated, 1CC; Cardiomyopathy, hypertrophic, 20
PKP2 Arrhythmogenic right ventricular cardiomyopathy, type 9
PLN Dilated cardiomyopathy 1P; Familial hypertrophic cardiomyopathy 18
RAF1 Cardiomyopathy, dilated, 1NN; LEOPARD syndrome 2; Noonan syndrome 5
RBM20 Cardiomyopathy, dilated, 1DD
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
SGCD Cardiomyopathy, dilated, 1L; Muscular dystrophy, limb-girdle, type 2F
TAZ Barth syndrome
TBX20 Atrial septal defect 4
TCAP Cardiomyopathy, hypertrophic, 25;
Muscular dystrophy, limb-girdle, type 2G
TNNC1 Cardiomyopathy, dilated, 1Z; Cardiomyopathy, hypertrophic, 13
TNNI3 Cardiomyopathy, dilated, 2A; Cardiomyopathy, dilated, 1FF;
Cardiomyopathy, familial restrictive, 1; Cardiomyopathy, hypertrophic, 7
TNNT2 Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial restrictive, 3;
Cardiomyopathy, hypertrophic, 2
TPM1 Cardiomyopathy, dilated, 1Y; Cardiomyopathy, hypertrophic, 3
TTN Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9;
Muscular dystrophy, limb-girdle, type 2J;
Myopathy, proximal, with early respiratory muscle involvement; Salih myopathy;
Tibial muscular dystrophy, tardive
TTR Amyloidosis, hereditary, transthyretin-related;
Carpal tunnel syndrome, familial
VCL Cardiomyopathy, dilated, 1W; Cardiomyopathy, hypertrophic, 15

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
SCN4A Hyperkalemic periodic paralysis, type 2;
Hypokalemic periodic paralysis, type 2; Myasthenic syndrome, congenital, 16;
Myotonia congenita, atypical, acetazolamide-responsive;
Paramyotonia congenita
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