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
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

New version of Ashkenazi Jewish diseases microchip

An updated version of the APEX chip includes mutations in BRCA1, BRCA2, and LCA5 genes common in the Ashkenazi Jewish population. The test now detects up to 112 variants in 27 genes providing better screening and diagnostics for people of Ashkenazi Jewish ancestry.

Ashkenazi Jewish diseases

Ashkenazi Jewish Diseases NGS panel

(full coding

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. Confirmation of clinical diagnosis
    2. Carrier testing for at-risk family members
    3. Estimation of reproductive risks
    4. Genetic counseling
    5. Prenatal diagnosis for known familial mutation

In the Ashkenazi Jewish population, some severe and lethal genetic conditions occur with relatively high frequency. Current testing enables the analysis of the genes associated with  the following disorders in the Ashkenazi Jewish population: alpha 1-anti-trypsin deficiency, autosomal recessive retinitis pigmentosa,  Bardet-Biedl syndrome, Bloom syndrome, breast- and ovarian cancer, Canavan disease, cystic fibrosis, factor XI deficiency, familial dysautonomia,  familial hypercholesterolemia, familial hyperinsulinemia, familial mediterranean fever, Fanconi anemia, Gaucher disease, glycogen storage disease type 1A and IIIA,   Joubert syndrome II, Leber congenital amaurosis, lipoamide dehydrogenase deficiency, maple syrup urine disease, mucolipidosis type IV,  nemaline myopathy, Niemann-Pick A, non-syndromic sensorineural hearing loss, Tay-Sachs disease, Torsion dystonia, Usher syndrome type 1F and IIIA.


Asper Reprogenetics

Asper Reprogenetics

Ashkenazi Jewish Diseases
Carrier Testing
Cystic Fibrosis
Female Infertility UPDATED
Folate-Dependent Neural Tube Defects
Fragile X Syndrome
Male Factor Infertility UPDATED
Maternal Cell Contamination
Primary Ciliary Dyskinesia
Whole Exome Sequencing

Asper Reprogenetics comprises tests to determine carrier status of severe genetic diseases. Carrier testing is useful for individuals with family history of a genetic disorder and for people in certain ethnic groups with an increased risk of genetic conditions. The testing provides physicians and their patients valuable information for making calculated decisions regarding family planning and condition management.

Tests related to reproductive problems are also included in this testing selection. There are two main purposes of genetic testing – the identification of the infertility causes and optimization of the assisted reproductive technology. Genetic testing can play significant role in improving the reproductive outcomes of infertile couples. Moreover, couples would benefit from more fully informed decisions.