Ashkenazi Jewish Diseases NGS panel

Genes: ABCC8, AGL, ASPA, BCKDHB, BLM, BRCA1, BRCA2, CFTR, CLRN1, CYP21A2, DLD, F11, FANCC, FKTN, GBA, GJB2, G6PC, HEXA, IKBKAP, LCA5, LDLR, LRRK2, MCOLN1, MEFV, MSH2, MSH6, NEB, PCDH15, SERPINA1, SMN1, SMPD1, TMEM216, TOR1A

Price / TAT: 1051 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

Targeted mutation analysis

Genes: 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

No of
detectable
markers:
117

Lab method: DNA microarray (APEX – Arrayed Primer EXtension)

Price / TAT: 316 EUR / 2-4 weeks

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.


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.

For further information:

Comprehensive Arrayed Primer Extension Array for the Detection of 59 Sequence Variants in 15 Conditions Prevalent Among the (Ashkenazi) Jewish Population
Schrijver I, Külm M, Gardner PI, Pergament EP, and Fiddle MB
Journal of Molecular Diagnostics, Vol. 9, No. 2, April 2007