Severe Combined Immunodeficiency NGS panel

Published 07/07/2021

Severe Combined Immunodeficiency NGS panel

Genes
(full coding
region):		 ADA, AK2, CARD11, CD247, CD40, CD8A, CD3D, CD3E, CD3G, CD40LG, CIITA, CORO1A, DCLRE1C, DOCK8, FOXN1, IKBKB, IL7R, IL2RA, IL2RG, JAK3, LCK, LIG4, MALT1, MTHFD1, NHEJ1, ORAI1, PGM3, PNP, PRKDC, PTPRC, RAC2, RAG1, RAG2, RFX5, RFXANK, RFXAP, RMRP, SLC46A1, STAT5B, STIM1, TBX1, TTC7A, UNC119, ZAP70

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 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 Severe Combined Immunodeficiency NGS panel

Published 07/07/2021

List of diseases covered by
Severe Combined Immunodeficiency NGS panel

Gene Condition
ADA Severe combined immunodeficiency due to ADA deficiency
AK2 Reticular dysgenesis
CARD11 B-cell expansion with NFKB and T-cell anergy; Immunodeficiency 11A;
Immunodeficiency 11B with atopic dermatitis
CD247 Immunodeficiency 25
CD40 Immunodeficiency with hyper-IgM, type 3
CD8A CD8 deficiency, familial
CD3D Immunodeficiency 19
CD3E Immunodeficiency 18, SCID variant
CD3G Immunodeficiency 17, CD3 gamma deficient
CD40LG Immunodeficiency, X-linked, with hyper-IgM
CIITA Bare lymphocyte syndrome, type II, complementation group A;
Rheumatoid arthritis, susceptibility to
CORO1A Immunodeficiency 8
DCLRE1C Severe combined immunodeficiency, Athabascan type; Omenn syndrome
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy;
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
IKBKB Immunodeficiency 15A; Immunodeficiency 15B
IL7R Severe combined immunodeficiency, T-cell negative,
B-cell/natural killer cell-positive type
IL2RA Immunodeficiency 41 with lymphoproliferation and autoimmunity
IL2RG Combined immunodeficiency, X-linked, moderate;
Severe combined immunodeficiency, X-linked
JAK3 SCID, autosomal recessive, T-negative/B-positive type
LCK Immunodeficiency 22
LIG4 LIG4 syndrome
MALT1 Immunodeficiency 12
MTHFD1 Combined immunodeficiency and megaloblastic anemia
with or without hyperhomocysteinemia
NHEJ1 Severe combined immunodeficiency with microcephaly,
growth retardation, and sensitivity to ionizing radiation
ORAI1 Immunodeficiency 9; Myopathy, tubular aggregate, 2
PGM3 Immunodeficiency 23
PNP Immunodeficiency due to purine nucleoside phosphorylase deficiency
PRKDC Immunodeficiency 26, with or without neurologic abnormalities
PTPRC Severe combined immunodeficiency, T cell-negative,
B-cell/natural killer-cell positive
RAC2 Immunodeficiency 73C with defective neutrophil
chemotaxis and hypogammaglobulinemia;
Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis;
Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
RAG1 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion,
severe cytomegalovirus infection, and autoimmunity; Omenn syndrome;
Combined cellular and humoral immune defects with granulomas;
Severe combined immunodeficiency, B cell-negative
RAG2 Combined cellular and humoral immune defects with granulomas; Omenn syndrome;
Severe combined immunodeficiency, B cell-negative
RFX5 Bare lymphocyte syndrome, type II, complementation group C
RFXANK MHC class II deficiency, complementation group B
RFXAP Bare lymphocyte syndrome, type II,
complementation group D
RMRP Anauxetic dysplasia 1; Cartilage-hair hypoplasia;
Metaphyseal dysplasia without hypotrichosis
SLC46A1 Folate malabsorption, hereditary
STAT5B Growth hormone insensitivity
with immune dysregulation 1, autosomal recessive;
Growth hormone insensitivity with immune dysregulation 2, autosomal dominant
STIM1 Immunodeficiency 10; Myopathy, tubular aggregate, 1;
Stormorken syndrome
TBX1 Conotruncal anomaly face syndrome;
DiGeorge syndrome; Tetralogy of Fallot; Velocardiofacial syndrome
TTC7A Gastrointestinal defects and immunodeficiency syndrome
UNC119 Immunodeficiency 13
ZAP70 Immunodeficiency 48;
Autoimmune disease, multisystem, infantile-onset, 2

Neutropenia NGS panel

Published 30/06/2021

Neutropenia NGS panel

Genes
(full coding
region):		 AP3B1, CSF3R, CXCR4, DNAJC21, EFL1, ELANE, GATA1, GATA2, GFI1, G6PC3, HAX1, JAGN1, LAMTOR2, LYST, RAB27A, RAC2, SBDS, SLC37A4, SMARCD2, SRP54, TAFAZZIN, USB1, VPS13B, VPS45, WAS, WIPF1

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 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

Malignant Hyperthermia NGS panel

Published 09/04/2021

Malignant Hyperthermia NGS panel

Genes
(full coding
region):		 CACNA1S, RYR1, STAC3
Lab method: NGS panel with CNV analysis
TAT: 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

Indications for genetic testing:

  1. Clinical episode of malignant hyperthermia (MH)
  2. Positive caffeine/halothane contracture test
  3. Relative with a positive contracture test or a known MH-causing variant
  4. Unexplained death with signs of MH during or immediately after anesthesia
  5. Exercise-related rhabdomyolysis and/or heat stroke

Malignant hyperthermia is an inherited pharmacogenetic disorder of calcium regulation resulting in uncontrolled skeletal muscle hypermetabolism.

Manifestations of MH are triggered by certain volatile anesthetics (i.e. halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with succinylcholine, a depolarizing muscle relaxant. The triggering substances initiate uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate.

MH clinical manifestations are hyperthermia, hypercapnia, tachycardia, acidosis, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure.

In nearly all cases, the first manifestations of MH occur in the operating room, MH may also occur in the early postoperative period. Recent studies show that some individuals with MH will also develop the disorder with exercise and/or on exposure to hot environments. Without prompt treatment with dantrolene sodium, mortality is extremely high.

MH is an autosomal dominant disorder.

References:

Riazi S, Kraeva N, Hopkins PM. Updated guide for the management of malignant hyperthermia. Can J Anaesth. 2018;65:709–21.
Rosenberg H et al. Malignant Hyperthermia Susceptibility. GeneReviews® Initial Posting: December 19, 2003; Last Update: January 16, 2020.
Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K. Malignant hyperthermia: A review. Orphanet J Rare Dis. 2015;10:93.

Asper Pharmacogenetics

Published 24/03/2021

Asper Pharmacogenetics

Aminoglycoside-Induced Deafness
Antidepressants PGx
Contraceptives + HRT PGx
Malignant Hyperthermia
Statin-Induced Myopathy

Asper Pharmacogenetics is a collection of genetic tests targeting drug-gene interactions including metabolic response to medications and predisposition to adverse drug reactions.

Extensive research has been carried out in the past years to determine the relationship between therapeutic drugs and genes. The studies demonstrate the growing importance of genetically guided treatment, especially in the concept of personalized medicine.

Knowledge on genetic aspects determining drug metabolism allows the implementation of genotype-guided prescription and dosing. It can not only improve drug efficacy but also help prevent adverse drug reactions.

 

CNV analysis

Published 12/02/2021

All NGS panels in our testing menu now include CNV analysis. Panels for frontotemporal dementia, tuberous sclerosis, microcephaly, and hereditary spastic paraplegia cover the analysis of clinically relevant non-coding variants. Learn more at  www.asperbio.com/asper-neurogenetics

List of non-coding variants covered by Microcephaly NGS panel

Published 25/01/2021

List of non-coding variants covered by
Microcephaly NGS panel

Gene Non-coding variant
ASPM c.2761-25A>G
ATR c.6897+464C>G
CDK5RAP2 c.4005-15A>G
CEP152 c.2148-17G>A
DONSON c.786-22A>G
ERCC6 c.1397+7751G>A
EXOSC3 c.475-12A>G
NCAPD3 c.382+14A>G
PNKP c.1387-33_1386+49delCCTCCTCCCCTGACCCC
POMT1 c.-30-2A>G
RBBP8 c.2287+53T>G
XRCC4 c.-10-1G>T

List of non-coding variants covered by Hereditary Spastic Paraplegia NGS panel

Published 22/01/2021

List of non-coding variants covered by
Hereditary Spastic Paraplegia NGS panel

Gene Non-coding variant
BTD c.310-15delT
GBE1 c.2053-3358_2053-3350delGTGTGGTGGinsTGTTTTTTACATGACAGGT
GJC2 c.-170A>G
GJC2 c.-167A>G
GJC2 c.-20+1G>C
L1CAM c.2432-19A>C
L1CAM c.523+12C>T
L1CAM c.2209-42_2229del
PAH c.1199+17G>A
PAH c.1066-11G>A
PAH c.169-13T>G
PLP1 c.454-314T>G
PLP1 c.454-312C>G
PLP1 c.453+159G>A
PLP1 c.453+164G>A
TH c.1198-24T>A
TH c.-70G>A
TH c.-71C>T

List of non-coding variants covered by Frontotemporal Dementia NGS panel

Published 22/01/2021

List of non-coding variants covered by
Frontotemporal Dementia NGS panel

Gene Non-coding variant
APP c.*331_*332delAT
APP c.-49+100C>A
APP c.-516C>G
APP c.-681G>A
CSF1R c.1859-119G>A
FUS c.*48G>A
FUS c.*59G>A
FUS c.*105dupT
FUS c.*108C>T
FUS c.*110G>A
FUS c.*132C>A
FUS c.*190C>A
GRN c.-9A>G
GRN c.-8+3A>T
GRN c.-8+3A>G
GRN c.-8+5G>C
MAPT c.1774-15T>C
MAPT c.1866+11T>C
MAPT c.1866+12C>T
MAPT c.1866+13A>G
MAPT c.1866+14C>T
MAPT c.1866+15A>C
MAPT c.1866+16C>T
MAPT c.1866+19C>G
PSEN1 c.869-23_869-22insTGGAATTTTGTGCTGTTG
SIGMAR1 c.*51G>T
SNCA c.*464C>A
TARDBP c.*83T>C
TARDBP c.*697G>A
VCP c.-360G>C

List of non-coding variants covered by Microcephaly NGS panel

Published 22/01/2021

List of non-coding variants covered by
Microcephaly NGS panel

Gene Non-coding variant
ASPM c.2761-25A>G
ATR c.6897+464C>G
CDK5RAP2 c.4005-15A>G
CEP152 c.2148-17G>A
DONSON c.786-22A>G
ERCC6 c.1397+7751G>A
EXOSC3 c.475-12A>G
NCAPD3 c.382+14A>G
PNKP c.1387-33_1386+49delCCTCCTCCCCTGACCCC
POMT1 c.-30-2A>G
RBBP8 c.2287+53T>G
XRCC4 c.-10-1G>T

List of diseases covered by Neurofibromatosis NGS panel

Published 20/11/2020

List of diseases covered by
Neurofibromatosis NGS panel

Gene Condition
CCND1 von Hippel-Lindau syndrome, modifier of
LZTR1 Schwannomatosis-2, susceptibility to
NF1 Neurofibromatosis-Noonan syndrome;
Neurofibromatosis, familial spinal; Neurofibromatosis, type 1;
Watson syndrome
NF2 Meningioma, NF2-related, somatic; Neurofibromatosis, type 2;
Schwannomatosis, somatic
SMARCB1 Rhabdoid tumor predisposition syndrome 1;
Schwannomatosis-1, susceptibility to; Coffin-Siris syndrome 3
SPRED1 Legius syndrome
TSC1 Tuberous sclerosis complex
TSC2 Tuberous sclerosis complex
VHL von Hippel-Lindau syndrome

List of diseases covered by Melanoma NGS panel

Published 20/11/2020

List of diseases covered by Melanoma NGS panel

Gene Condition
CDK4 Melanoma, cutaneous malignant, 3
CDKN2A Melanoma and neural system tumor syndrome;
Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous malignant, 2
MC1R Melanoma, cutaneous malignant, 5;
Albinism, oculocutaneous, type II, modifier of;
Skin/hair/eye pigmentation 2, blond hair/fair skin
MITF Melanoma, cutaneous malignant, susceptibility to, 8;
Tietz albinism-deafness syndrome
POT1 Melanoma, cutaneous malignant, susceptibility to, 10;
Glioma susceptibility 9
TERT Melanoma, cutaneous malignant, 9;
Dyskeratosis congenita, autosomal dominant 2; Leukemia, acute myeloid;
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
XRCC3 Melanoma, cutaneous malignant, 6;
Breast cancer, susceptibility to

List of diseases covered by Frazer Syndrome NGS panel

Published 12/11/2020

List of diseases covered by
Frazer Syndrome NGS panel

Gene Condition
EYA1 Otofaciocervical syndrome;
Anterior segment anomalies with or without cataract; ranchiootic syndrome 1;
Branchiootorenal syndrome 1, with or without cataracts
FREM1 Bifid nose with or without anorectal and renal anomalies;
Manitoba oculotrichoanal syndrome; Trigonocephaly 2
FREM2 Cryptophthalmos, unilateral or bilateral, isolated; Fraser syndrome 2
FRAS1 Fraser syndrome 1
GRIP1 Fraser syndrome 3
SIX1 Branchiootic syndrome 3; Deafness, autosomal dominant 23
SIX5 Branchiootorenal syndrome 2

List of diseases covered by Melanoma NGS panel

Published 09/11/2020

List of diseases covered by Melanoma NGS panel

Gene Condition
CDK4 Melanoma, cutaneous malignant, 3
CDKN2A Melanoma and neural system tumor syndrome;
Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous malignant, 2
MC1R Melanoma, cutaneous malignant, 5;
Albinism, oculocutaneous, type II, modifier of;
Skin/hair/eye pigmentation 2, blond hair/fair skin
MITF Melanoma, cutaneous malignant, susceptibility to, 8;
Tietz albinism-deafness syndrome
POT1 Melanoma, cutaneous malignant, susceptibility to, 10;
Glioma susceptibility 9
TERT Melanoma, cutaneous malignant, 9;
Dyskeratosis congenita, autosomal dominant 2; Leukemia, acute myeloid;
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
XRCC3 Melanoma, cutaneous malignant, 6;
Breast cancer, susceptibility to

List of non-coding variants covered by Congenital Muscular Dystrophy NGS panel

Published 02/10/2020

List of non-coding variants covered by
Congenital Muscular Dystrophy NGS panel

Gene Non-coding variant
DMD c.9974+175T>A
DMD c.9225-285A>G
DMD c.9225-647A>G
DMD c.8217+18052A>G
DMD c.6614+3310G>T
DMD c.4675-11A>G
DMD c.3432+2036A>G
DMD c.961-5831C>T
DMD c.832-15A>G
DMD c.650-39498A>G
DMD c.265-463A>G
DMD c.93+5590T>A
DMD c.31+36947G>A
FKRP c.-272G>A
FKTN c.648-1243G>T
LAMA2 c.5071+3104del
LMNA c.513+45T>G
LMNA c.1609-12T>G
POMGNT1 1284+2_1284+19del18
POMT1 c.-30-2A>G
SELENON c.*1107T>C

List of diseases covered by Congenital Muscular Dystrophy NGS panel

Published 02/10/2020

List of diseases covered by
Congenital Muscular Dystrophy NGS panel

Gene Condition
B3GALNT2 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies, type A, 11
B4GAT1 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 13
CHKB Muscular dystrophy, congenital, megaconial type
COL12A1 Bethlem myopathy 2; Ullrich congenital muscular dystrophy 2
COL6A1 Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1
COL6A2 Bethlem myopathy 1; Myosclerosis, congenital;
Ullrich congenital muscular dystrophy 1
COL6A3 Bethlem myopathy 1; Dystonia 27;
Ullrich congenital muscular dystrophy 1
CRPPA Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7;
Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 7
DAG1 Muscular dystrophy-dystroglycanopathy, type A, 9;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
DMD Becker muscular dystrophy; Cardiomyopathy, dilated, 3B;
Duchenne muscular dystrophy
DPM1 Congenital disorder of glycosylation, type Ie
DPM2 Congenital disorder of glycosylation, type Iu
DPM3 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15;
Muscular dystrophy-dystroglycanopathy
(congenital with impaired intellectual development), type B, 15
EMD mery-Dreifuss muscular dystrophy 1, X-linked
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, type A, 4;
Muscular dystrophy-dystroglycanopathy, type B, 4;
Muscular dystrophy-dystroglycanopathy
(limb-girdle), type C, 4; Cardiomyopathy, dilated, 1X
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 (limb-girdle), type C, 14
ITGA7 Muscular dystrophy, congenital, due to ITGA7 deficiency
LAMA2 Muscular dystrophy, congenital, merosin deficient or partially deficient;
Muscular dystrophy, limb-girdle, autosomal recessive 23
LARGE1 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 6;
Muscular dystrophy-dystroglycanopathy
(congenital with mental retardation), type B, 6
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
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;
Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 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
RXYLT1 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 10
SELENON Muscular dystrophy, rigid spine, 1;
Myopathy, congenital, with fiber-type disproportion
TCAP Muscular dystrophy, limb-girdle, type 2G;
Cardiomyopathy, hypertrophic, 25

Congenital Muscular Dystrophy NGS panel

Published 02/10/2020

Congenital Muscular Dystrophy
NGS panel

Genes
(full coding
region):		 B3GALNT2, B4GAT1, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DPM1, DPM2, DPM3, EMD, FKRP, FKTN, GMPPB, ITGA7, LAMA2, LARGE1, LMNA, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, SELENON, TCAP

List of diseases covered by the panel
Non-coding variants: List of non-coding variants covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 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 Cornelia de Lange Syndrome NGS panel

Published 02/10/2020

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

Cornelia de Lange Syndrome NGS panel

Published 02/10/2020

Cornelia de Lange Syndrome
NGS panel

Genes
(full coding
region):		 AFF4, ANKRD11, HDAC8, KMT2A, NIPBL, RAD21, SMC3, SMC1A, TAF6

List of diseases covered by the panel
Non-coding variants: List of non-coding variants covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 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

Deletion/duplication analysis of the NIPBL gene

Genes: NIPBL
Lab method: MLPA
TAT: 4-6 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

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Carrier testing of at-risk female relatives
3. Prenatal diagnosis for known familial mutation
4. Genetic counseling

Cornelia de Lange syndrome (CdLS) is characterized by distinctive facial features, growth retardation, developmental delay, hirsutism, and limb abnormalities. Craniofacial features include synophrys, arched eyebrows, long eyelashes, small upturned nose and thin downturned lips, small widely spaced teeth, and microcephaly.

Additional findings may include cardiac defects, gastrointestinal dysfunction, hearing loss, myopia, seizures, cleft palate, and cryptorchidism or hypoplastic genitalia.

The prevalence of disorder is estimated at 1:50,000 for the classic form of CdLS. CdLS can be inherited in an autosomal dominant or X-linked manner.

References:

Barisic I et al. EUROCAT Working Group. Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet A.2008;146A:51–9.
Deardorff MA et al. Cornelia de Lange Syndrome. GeneReviews® 2005 Sept 16 (Updated 2011 Oct 27).
Kline AD et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet. 2007;145C:248–60. 

List of diseases covered by Left Ventricular Noncompaction Cardiomyopathy NGS panel

Published 30/09/2020

List of diseases covered by
Left Ventricular Noncompaction Cardiomyopathy
NGS panel

Gene Condition
ACTC1 Left ventricular noncompaction 4; Cardiomyopathy, hypertrophic, 11;
Atrial septal defect 5
CASQ2 Ventricular tachycardia, catecholaminergic polymorphic, 2
DTNA Left ventricular noncompaction 1, with or without congenital heart defects
LDB3 Left ventricular noncompaction 3; 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; Heart-hand syndrome, Slovenian type;
Lipodystrophy, familial partial, type 2; Malouf syndrome
MIB1 Left ventricular noncompaction 7
MYBPC3 Left ventricular noncompaction 10; Cardiomyopathy, hypertrophic, 4
MYH7 Left ventricular noncompaction 5; Cardiomyopathy, hypertrophic, 1;
Laing distal myopathy; Myopathy, myosin storage, autosomal dominant;
Myopathy, myosin storage, autosomal recessive;
Scapuloperoneal syndrome, myopathic type
PRDM16 Left ventricular noncompaction 8
TAZ Barth syndrome
TNNT2 Left ventricular noncompaction 6; Cardiomyopathy, familial restrictive, 3;
Cardiomyopathy, hypertrophic, 2
TPM1 Left ventricular noncompaction 9; Cardiomyopathy, hypertrophic, 3
VCL Cardiomyopathy, dilated, 1W; Cardiomyopathy, hypertrophic, 15

Left Ventricular Noncompaction Cardiomyopathy NGS panel

Published 30/09/2020

Left Ventricular Noncompaction Cardiomyopathy
NGS panel

Genes
(full
coding region):		 ACTC1, CASQ2, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1, VCL

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 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 non-coding variants covered by Charcot-Marie-Tooth NGS panel

Published 08/06/2020

List of non-coding variants covered by
Charcot-Marie-Tooth NGS panel

Gene Non-coding variant
CTDP1 c.863+389C>T
GJB1 c.-103C>T
GJB1 c.-17G>A
GJB1 c.-17+1G>T
GJB1 c.-17+2T>C
GJB1 c.-16-2A>G
GJB1 c.-16-1G>A
HK1 c.-390-3838G>C
HK1 c.-390-3818G>C
IGHMBP2 c.1235+894C>A
LMNA c.513+45T>G
LMNA c.1609-12T>G
NTRK1 c.851-33T>A
NTRK1 c.2206-11G>A
SEPT9 c.-134G>C
SURF1 c.324-11T>G

List of non-coding variants covered by Dystonia NGS panel

Published 08/06/2020

List of non-coding variants covered by
Dystonia NGS panel

Gene Non-coding variant
ATM c.2639-384A>G
ATM c.2839-579_2839-576del
ATM c.5763-1050A>G
ATP7B c.-439_-425del
ATP7B c.-676A>G
SLC2A1 c.680-11G>A
TH c.1198-24T>A
TH c.-70G>A
TH c.-71C>T
TIMM8A c.133-23A>C

List of non-coding variants covered by Hereditary Ataxia NGS panel

Published 08/06/2020

List of non-coding variants covered by
Hereditary Ataxia NGS panel

Gene Non-coding variant
AMT c.-55C>T
ATM c.-30-1G>T
ATM c.2639-384A>G
ATM c.2839-579_2839-576delAAGT
ATM c.5763-1050A>G
CACNA1A c.631+5G>A
CACNA1A c.4093-3C>G
CACNA1A c.5403+2T>C
CEP290 c.2991+1655A>G
CEP290 c.1910-11T>G
CEP290 c.1066-1G>A
CEP290 c.1190-2A>G
CEP290 c.2052+1_2052+2delGT
CEP290 c.4438-3delC
CEP290 c.4813-2A>G
CEP290 c.3461+1G>A
CEP290 c.6135+2T>A
COQ8A c.*72dupG
DARS c.228-22T>A
GSS c.-9+5G>A
KCNJ10 c.-1+1G>T
OFD1 c.935+706A>G
OFD1 c.1130-22_1130-19delAATT
OFD1 c.413-10T>G
PAX6 c.142-14C>G
PAX6 c.-52+1G>A
PAX6 c.-52+5delG
PAX6 c.-52+3_-52+6delAAGTinsTG
PAX6 c.-52+3_-52+4delAA
PAX6 c.-128-2delA
PAX6 c.-129+2T>A
PAX6 c.-129+1G>A
PAX6 c.-138_-129+3delCCTCATAAAGGTG
PEX7 c.-45C>T
PNKP c.1386+49_1387_33delCCTCCTCCCCTGACCCC
SERAC1 c.92-165C>T
SERAC1 c.92-239G>C
SLC2A1 c.680-11G>A
SLC52A2 c.-110-1G>A
STUB1 c.*240T>C
SYNE1 c.15918-12A>G
TMEM231 c.824-11T>C
TPP1 c.887-18A>G
TTC19 c.-42G>T

Congenital Fibrosis of Extraocular Muscles NGS panel

Published 11/05/2020

Congenital Fibrosis of Extraocular Muscles NGS panel

Genes
(full coding
region):		 KIF21A, TUBB3, TUBB2B, PHOX2A
Lab method: NGS panel with CNV analysis
TAT: 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 Hypomagnesemia NGS panel

Published 17/03/2020

List of diseases covered by
Hypomagnesemia NGS panel

Gene Condition
BSND Bartter syndrome, type 4a
CASR Hyperparathyroidism, neonatal;
Hypocalcemia, autosomal dominant; Hypocalciuric hypercalcemia, type I;
Epilepsy idiopathic generalized, susceptibility to, 8
CLCNKB Bartter syndrome, type 3; Bartter syndrome, type 4b, digenic
CLDN16 Hypomagnesemia 3, renal
CLDN19 Hypomagnesemia 5, renal, with ocular involvement
CNNM2 Hypomagnesemia 6, renal;
Hypomagnesemia, seizures, and mental retardation
CNNM4 Jalili syndrome
EGF Hypomagnesemia 4, renal
FAM111A Kenny-Caffey syndrome, type 2;
Gracile bone dysplasia
FXYD2 Hypomagnesemia 2, renal
HNF1B Renal cysts and diabetes syndrome;
Diabetes mellitus, noninsulin-dependent; Renal cell carcinoma
KCNA1 Episodic ataxia/myokymia syndrome
KCNJ10 Enlarged vestibular aqueduct, digenic;
SESAME syndrome
MAGT1 Congenital disorder of glycosylation, type Icc;
Immunodeficiency, X-linked, with magnesium defect,
Epstein-Barr virus infection and neoplasia
PCBD1 Hyperphenylalaninemia, BH4-deficient, D
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
SLC12A3 Gitelman syndrome
TRPM6 Hypomagnesemia 1, intestinal

Hypomagnesemia NGS panel

Published 17/03/2020

Hypomagnesemia NGS panel

Genes
(full coding
region):		 BSND, CASR, CLCNKB, CLDN16, CLDN19, CNNM2, CNNM4, EGF, FAM111A, FXYD2, HNF1B, KCNA1, KCNJ10, MAGT1, NIPA2, PCBD1, SARS2, SLC12A3, TRPM6

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 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 Familial Hemiplegic Migraine NGS panel

Published 13/03/2020

List of diseases covered by
Familial Hemiplegic Migraine NGS panel

Gene Condition
ATP1A2 Migraine, familial hemiplegic, 2;
Alternating hemiplegia of childhood 1
ATP1A3 Alternating hemiplegia of childhood 2; CAPOS syndrome; Dystonia-12
CACNA1A Migraine, familial hemiplegic, 1;
Epileptic encephalopathy, early infantile, 42; Episodic ataxia, type 2;
Spinocerebellar ataxia 6
CSNK1D Advanced sleep-phase syndrome, familial, 2
KCNK18 Migraine, with or without aura, susceptibility to, 13
NOTCH3 Cerebral arteriopathy with subcortical infarcts
and leukoencephalopathy 1; Lateral meningocele syndrome;
Myofibromatosis, infantile 2
PNKD Paroxysmal nonkinesigenic dyskinesia 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
PRRT2 Convulsions, familial infantile, with paroxysmal choreoathetosis;
Episodic kinesigenic dyskinesia 1; Seizures, benign familial infantile, 2
SCN1A Migraine, familial hemiplegic, 3;
Epilepsy, generalized, with febrile seizures plus, type 2;
Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
SLC1A3 Episodic ataxia, type 6
SLC2A1 Epilepsy, idiopathic generalized, susceptibility to, 12; Dystonia 9;
GLUT1 deficiency syndrome 1, infantile onset, severe;
GLUT1 deficiency syndrome 2, childhood onset;
Stomatin-deficient cryohydrocytosis with neurologic defects
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities

Familial Hemiplegic Migraine NGS panel

Published 13/03/2020

Familial Hemiplegic Migraine NGS panel

Genes
(full coding
region):		 ALPK1, ATP1A2, ATP1A3, CACNA1A, CSNK1D, KCNK6, KCNK18, NOTCH3, PNKD, POLG, PRRT2, SCN1A, SLC1A3, SLC2A1, SLC4A4

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 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 Female Infertility NGS panel

Published 11/03/2020

List of diseases covered by
Female Infertility NGS panel

Gene Condition
ANOS1 Hypogonadotropic hypogonadism 1 with or without anosmia
(Kallmann syndrome 1)
AR Aplasia of the uterus
BMP15 Premature ovarian failure 4
BMP4 Microphthalmia, syndromic 6; Orofacial cleft 11
CASR Hyperparathyroidism, neonatal;
Hypocalcemia, autosomal dominant; Hypocalciuric hypercalcemia, type I
CFTR Cystic fibrosis
CLPP Perrault syndrome 3
DUOX2 Thyroid dyshormonogenesis 6
DUOXA2 Thyroid dyshormonogenesis 5
DUSP6 Hypogonadotropic hypogonadism 19 with or without anosmia
EIF2B1 Leukoencephalopathy with vanishing white matter
EIF2B2 Ovarioleukodystrophy
EIF2B4 Ovarioleukodystrophy
EIF2B5 Ovarioleukodystrophy
ERCC6 Premature ovarian failure 11
ESR1 Estrogen resistance
ESR2 Ovarian dysgenesis 8
F2 Thrombophilia due to thrombin defect;
Pregnancy loss, recurrent, susceptibility to, 2
F5 Thrombophilia due to activated protein C resistance;
Factor V deficiency; Pregnancy loss, recurrent, susceptibility to, 1
FEZF1 Hypogonadotropic hypogonadism 22, with or without anosmia
FGF17 Hypogonadotropic hypogonadism 20 with or without anosmia
FGF8 Hypogonadotropic hypogonadism 6 with or without anosmia
FGFR1 Hypogonadotropic hypogonadism 2 with or without anosmia
FIGLA Premature ovarian failure 6
FLRT3 Hypogonadotropic hypogonadism 21 with anosmia
FMR1 Premature ovarian failure 1
FOXE1 Bamforth-Lazarus syndrome
FOXL2 Premature ovarian failure 3
FSHB Hypogonadotropic hypogonadism 24 without anosmia
FSHR Ovarian dysgenesis 1;
Ovarian hyperstimulation syndrome;
Ovarian response to FSH stimulation
GCM2 Hyperparathyroidism 4; Hypoparathyroidism, familial isolated
GDF9 Premature ovarian failure 14
GHR Growth hormone insensitivity, partial; Laron dwarfism
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
GNAS McCune-Albright syndrome;
ACTH-independent macronodular adrenal hyperplasia;
Pseudohypoparathyroidism Ia; Pseudohypoparathyroidism Ib;
Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism;
Osseous heteroplasia, progressive
GNRH1 Hypogonadotropic hypogonadism 12 with or without anosmia
GNRHR Hypogonadotropic hypogonadism 7 without anosmia
HARS2 Perrault syndrome 2
HESX1 Growth hormone deficiency with pituitary anomalies
HFM1 Premature ovarian failure 9
HSD17B4 Perrault syndrome 1
HS6ST1 Hypogonadotropic hypogonadism 15 with or without anosmia
IGSF1 Hypothyroidism, central, and testicular enlargement
IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia
IRS4 Hypothyroidism, congenital, nongoitrous, 9
IYD Thyroid dyshormonogenesis 4
KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia;
Precocious puberty, central, 1
LARS2 Perrault syndrome 4
LHCGR Leydig cell hypoplasia with hypergonadotropic hypogonadism
LHB Isolated lutropin deficiency
LHX3 Pituitary hormone deficiency, combined, 3
LHX4 Pituitary hormone deficiency, combined, 4
MCM8 Premature ovarian failure 10
MCM9 Ovarian dysgenesis 4
MSH5 Premature ovarian failure 13
MRPS22 Ovarian dysgenesis 7
MTHFR Homocystinuria due to MTHFR deficiency
NKX2-1 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
NKX2-5 Hypothyroidism, congenital nongoitrous, 5
NOBOX Premature ovarian failure 5
NR0B1 Adrenal hypoplasia, congenital; 46XY sex reversal 2, dosage-sensitive
NR5A1 Premature ovarian failure 7; 46, XX sex reversal 4; 46XY sex reversal 3
NSMF Hypogonadotropic hypogonadism 9 with or without anosmia
NUP107 Ovarian dysgenesis 6; Nephrotic syndrome, type 11;
Galloway-Mowat syndrome 7
OTX2 Pituitary hormone deficiency, combined, 6;
Retinal dystrophy, early-onset, with or without pituitary dysfunction
PADI6 Preimplantation embryonic lethality 2
PATL2 Oocyte maturation defect 4
PAX8 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
PDE3A Hypertension and brachydactyly syndrome
POLR3B Leukodystrophy, hypomyelinating, 8,
with or without oligodontia and/or hypogonadotropic hypogonadism
POU1F1 Pituitary hormone deficiency, combined, 1
PROC Thrombophilia due to protein C deficiency, autosomal dominant;
Thrombophilia due to protein C deficiency, autosomal recessive
PROK2 Hypogonadotropic hypogonadism 4 with or without anosmia
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia
PROP1 Pituitary hormone deficiency, combined, 2
PROS1 Thrombophilia due to protein S deficiency, autosomal dominant;
Thrombophilia due to protein S deficiency, autosomal recessive
PSMC3IP Ovarian dysgenesis 3
SECISBP2 Thyroid hormone metabolism, abnormal
SEMA3A Hypogonadotropic hypogonadism 16 with or without anosmia
SERPINC1 Thrombophilia due to antithrombin III deficiency
SERPINE1 Plasminogen activator inhibitor-1 deficiency
SLC26A4 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct;
Pendred syndrome
SLC5A5 Thyroid dyshormonogenesis 1
SOHLH1 Ovarian dysgenesis 5
SOX10 PCWH syndrome; Waardenburg syndrome, type 2E,
with or without neurologic involvement; Waardenburg syndrome, type 4C
SOX2 Microphthalmia, syndromic 3
SOX3 Mental retardation, X-linked,
with isolated growth hormone deficiency; Panhypopituitarism, X-linked
SPRY4 Hypogonadotropic hypogonadism 17 with or without anosmia
SRA1 Hypogonadism with anosmia
STAG3 Premature ovarian failure 8
SYCE1 Premature ovarian failure 12
SYCP3 Pregnancy loss, recurrent, 4
TAC3 Hypogonadotropic hypogonadism 10 with or without anosmia
TACR3 Hypogonadotropic hypogonadism 11 with or without anosmia
TBL1X Hypothyroidism, congenital, nongoitrous, 8
TG Thyroid dyshormonogenesis 3
THBD Thrombophilia due to thrombomodulin defect
THRA Hypothyroidism, congenital, nongoitrous, 6
THRB Thyroid hormone resistance;
Thyroid hormone resistance, autosomal recessive;
Thyroid hormone resistance, selective pituitary
TPO Thyroid dyshormonogenesis 2A
TRH Thyrotropin-releasing hormone deficiency
TRHR Hypothyroidism, congenital, nongoitrous, 7
TSHB Hypothyroidism, congenital, nongoitrous 4
TSHR Hyperthyroidism, familial gestational; Hypothyroidism, congenital, nongoitrous, 1
TUBB8 Oocyte maturation defect 2
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia
WEE2 Oocyte maturation defect 5
WNT4 Mullerian aplasia and hyperandrogenism; SERKAL syndrome
WT1 Frasier syndrome; Denys-Drash syndrome; Meacham syndrome
ZP1 Oocyte maturation defect 1
ZP2 Oocyte maturation defect 6
ZP3 Oocyte maturation defect 3

Female Infertility NGS panel

Published 11/03/2020

Female Infertility NGS panel

Genes: ANOS1, AR, AXL, BMP15, BMP4, CASR, CCDC141, CFTR, CLPP, CPEB1, DUOX1, DUOX2, DUOXA2, DUSP6, EIF2B1, EIF2B2, EIF2B4, EIF2B5, EIF4ENIF1, ERCC6, ESR1, ESR2, F2, F5, FEZF1, FGF17, FGF8, FGFR1, FIGLA, FLRT3, FMR1 (incl CGG trinucleotide repeat expansion), FOXE1, FOXL2, FSHB, FSHR, GCM2, GDF9, GHR, GLIS3, GNAS, GNRH1, GNRHR, HARS2, HESX1, HFM1, HSD17B4, HS6ST1, IGSF1, IL17RD, INHA, IRS4, IYD, KISS1, KISS1R, LARS2, LHCGR, LHB, LHX3, LHX4, LHX8, MCM8, MCM9, MRPS22, MSH5, MTHFR, NANOS3, NKX2-1, NKX2-5, NLRP2, NLRP5, NOBOX, NR0B1, NR5A1, NSMF, NUP107, OTX2, PADI6, PATL2, PAX8, PDE3A, PLCZ1, POLR3B, POU1F1, PROC, PROK2, PROKR2, PROP1, PROS1, PSMC3IP, SECISBP2, SEMA3A, SERPINC1, SERPINE1, SLC26A4, SLC5A5, SMC1B, SOHLH1, SOX10, SOX2, SOX3, SPIDR, SPRY4, SRA1, STAG3, SYCE1, SYCE3, SYCP3, TAC3, TACR3, TBL1X, TG, THBD, THRA, THRB, TPO, TRH, TRHR, TSHB, TSHR, TTF1, TUBB8, WDR11, WEE2, WNT4, WT1, ZP1, ZP2, ZP3

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 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

Indications for genetic testing:

  1. Suspected infertility in women who had already undergone basic clinical analysis and karyotype analysis
  2. Primary ovarian dysfunction or recurrent fetal loss
  3. Testing of infertile couples who will be undergoing treatment with assisted reproductive technology (ART), especially a genetic anomaly is found in either one component of the couple
  4. Evaluation of the risk of disease to be transmitted to the child to be born through ART

Female factors account for at least 35% of all infertility cases and comprise a wide range of causes affecting ovarian development, maturation of oocytes, and fertilization competence as well as the potential of a fertilized egg for preimplantation development, implantation, and fetal growth.

Other factors influencing female infertility include diseases such as polycystic ovarian syndrome (PCOS) and endometriosis, and the cumulative effects of environmental factors and lifestyle. PCOS, the most common cause of infertility is a complex, hormonal and metabolic disorder affecting 5–20% of women of reproductive age. The disease is characterised by hyperandrogenism, ovulatory dysfunction, polycystic ovarian morphology and gonadotropic abnormalities. Endometriosis affects 7–10% of women and is associated with infertility.

Genetic abnormalities leading to infertility in females encompass large chromosome abnormalities, submicroscopic chromosome deletion and duplications, and DNA sequence variations in the genes involved in oogenesis, maintenance of ovarian reserve, hormonal signaling, and anatomical and functional development of female reproductive organs. Genetic abnormalities are implicated in about 10% of female infertility cases.

References:

Dallel, M. et al 2018. Differential association of DENND1A genetic variants with polycystic ovary syndrome in Tunisian but not Bahraini Arab women. Gene 647, 79–84
Day, FR et al 2015. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. Nat. Commun. 6, 8464.
Foresta, C 2002. Guidelines for the appropriate use of genetic tests in infertile couples. European Journal of Human Genetics, 10(5), 303–312.
Gajbhiye, R et al 2018. Complex genetics of female fertility. Npj Genomic Medicine, 3(1).
Giudice, LC and Kao, LC 2004. Endometriosis. Lancet 364, 1789–1799. 
Azziz, R 2016. PCOS in 2015: New insights into the genetics of polycystic ovary syndrome. Nat. Rev. Endocrinol. 12, 183.
Lambalk, CB et al 2017. GnRH antagonist versus long agonist protocols in IVF: a systematic review and meta-analysis accounting for patient type. Hum Reprod.
Lawler, AM and Gearhart, JD 1998. Genetic counselling for patients who will be undergoing treatmnent with assisted reproductive technology. Fertil Steril 70: 412 ± 413.
Norman, RJ et al 2007. Polycystic ovary syndrome. Lancet 370, 685–697.
Venkatesh, T et al 2014. New insights into the genetic basis of infertility. Appl Clin Genet. 2014; 7: 235–243.
Yatsenko, SA and Rajkovic, A 2019. Genetics of human female infertility. Biol Reprod. 2019 Sep 1;101(3):549-566.