Ashkenazi Jewish Panel

INFINITI Ashkenazi Jewish Panel Assay

  • The INFINITI Ashkenazi Jewish Panel is designed to identify specific genetic mutations.
  • The INFINITI Ashkenazi Jewish Panel utilizes the Ashkenazi Jewish Panel Intellipac, Ashkenazi Jewish Panel Amp Mix and Ashkenazi Jewish Panel BioFilmChip Microarray.
  • The INFINITI Ashkenazi Jewish Panel is automated by the INFINITI Analyzer.
  • The INFINITI Ashkenazi Jewish Panel is for research use only. Not for use in diagnostic procedures.

Analytes Detected: 

  • Gaucher (GBA): 84G>GG, N3705S, L444P, Delta55bp, V394L, D409H, R496H
  • Tay-Sachs (HEXA): Delta7.6kb, G269S, IVS9(+)1G>A, 1278insTATC, IVS12(+1)G>C, R247W, R249W
  • Bloom Syndrome (BLM): 2281del6>ins7
  • Fanconi Anemia (FANCC): 322delG, IVS4(+4)A>T
  • Familial Dysautonomia: R696P, IVS20(+6)T>C
  • Mucolipidosis IV (MCOLN1): Delta6.4kb, IVS3(-2)A>G
  • Canavan (ASPA): Y231X(>A), E285A, A305E, 433(-2)A>G, (C>T)
  • Niemann-Pick (SMPD1): L302P, 1bp del P330fs, R496L, Delta R608


  • Multiplexed Determination of 30 genetic variants.
  • Rapid turnaround time enhances workflow efficiency.
  • Processed on the INFINITI High Throughput System; or Load & Go automation on the INFINITI/INFINITI PLUS Analyzer.
  • Replicate determinations on a single BioFilmChip Microarray ensures quality results.

Sample Type and Volume: 

  • Requires 50 ng DNA / reaction

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