Ashkenazi Jewish diseases
In the Ashkenazi Jewish population, serious and lethal genetic conditions occur with relatively high frequency. For comprehensive carrier screening and molecular diagnostic purposes, Asper Biotech has developed a population-specific and inclusive genetic test. The test enables one to analyze the most common mutations in this Jewish population such as: Cystic Fibrosis, Tay-Sachs disease, Bloom syndrome, Canavan disease, Niemann-Pick A, Familial dysautonomia, Torsion dystonia, Mucolipidosis type IV, Fanconi Anemia, Gaucher disease, Factor XI deficiency, glycogen storage disease type 1a , Maple syrup urine disease, Non-syndromic sensorineural hearing loss, Familial Mediterranean fever, Alpha 1-anti-trypsin Deficiency, Nemaline Myopathy, Usher Syndrome Type 1F, Familial hyperinsulinemia, Familial Hypercholesterolemia, Lipoamide Dehydrogenase Deficiency, Glycogen storage disease type III and Joubert syndrome 2.
The developed genetic test covers a total of 78 mutations in 23 genes: HEXA, BLM, ASPA, SMPD1, IKBKAP, DYT1, MCOLN1, FANCC, F11, G6PC, BCKDHB, GJB2, MEFV, GDE (or Amylo-1,6-glucosidase), GBA, SERPINA1, NEB, DLD, PCDH15, ABCC8, LDLR, CFTR and TMEM216.
Genetic testing is recommended for carrier screening and genetic counseling in the Ashkenazi Jewish population. The test is available both with genotyping service (includes genotyping, electronical copy of the results report) and diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).
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Ashkenazi Jewish diseases - read more.
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
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