Ashkenazi Jewish Diseases NGS panel
Genes
(full coding
region): |
ABCC8, AGL, ASPA, BCKDHB, BLM, BRCA1, BRCA2, CFTR, CLRN1, DLD, F11, FANCC, FKTN, GBA, GJB2, G6PC, HEXA, IKBKAP, LCA5, LDLR, LRRK2, MCOLN1, MEFV, MSH2, MSH6, NEB, PCDH15, SERPINA1, SMN1, SMPD1, TMEM216, TOR1A
List of diseases covered by the panel |
Lab method: |
NGS panel
NGS panel with CNV |
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. |
Targeted regions sequencing
Genes (targeted regions): |
ABCC8, AGL, ASPA, BBS2, BCKDHB, BLM, BRCA1, BRCA2, CFTR, CLRN1, DHDDS, DLD, FAM161A, F11, FANCC, GBA, GJB2, G6PC, HEXA, IKBKAP, LCA5, LDLR, MAK, MCOLN1, MEFV, NEB, PCDH15, SERPINA1, SMPD1, TMEM216, TOR1A |
Lab method: |
Next generation sequencing |
Specimen requirements: |
2-4 ml of blood with anticoagulant EDTA
3,5 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. |
Indications for genetic testing:
-
- Confirmation of clinical diagnosis
- Carrier testing for at-risk family members
- Estimation of reproductive risks
- Genetic counseling
- 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.