Ashkenazi Jewish Diseases Analysis KIT

- all you need in one box –

Quick facts
  • 78 genetic variations from 23 genes detected simultaneously in a single run
  • Variations cover Ashkenazi and Sephardic Jewish populations
  • Developed with the leading scientists in the Ashkenazi Jewish Diseases research community backed by the latest scientific and medical studies
    
Cat #    
Product name
G60109 
Ashkenazi Jewish Diseases Analysis KIT for 25 reactions  
Easy to use
  • Everything you need is in one box
  • Analysis software comes with integrated guidance for mutation detection
  • Barcoded arrays to ensure precise tracking
  • Consultations from day-to-day users
Reliable and up to date
  • >99.9% accuracy
  • List of relevant publications is available on Genorama website
  • Intensively used throughout years and hundreds of screened samples
  • Based on established and validated APEX technology
  • Genorama is keeping a close eye on new discoveries in the field

Genorama Ashkenazi Jewish Diseases genetic test

Genorama reliable Ashkenazi Jewish Diseases genetic test is based on flexible and cost-effective Arrayed Primer EXtension (APEX) genotyping technology. The test enables to determine 78 disease related genetic variations in 23 genes - HEX A, BLM, ASPA, SMPD1, IKBKAP, DYT1, MCOLN1, FANCC, F11, G6PC, BCKDHB, GJB2, MEFV, GDE, GBA, CFTR, SERPA, NEB, PCDH15, ABCC8, LDLR, DLD, TMEM216. Current test allows to detect preselected mutations related to 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. Genorama Ashkenazi Jewish Diseases genetic test is suitable for both carrier screening and confirming the diagnosis.

Genorama Ashkenazi Jewish Diseases Analysis KIT includes all consumables for successful analysis process and provides all necessary reagents, PCR primers and barcoded arrays for 25 tests.
  • PCR primers and Purification Kit
  • APEX Template Preparation Kit
  • APEX Reaction Mixture Kit
  • Ashkenazi Jewish diseases microarrays

* Please note that you would need an operational Genorama® Genotyping PlatformTM before placing an order for Genorama genetic test Analysis KITs.