Test ID: AJPWO
Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis (CF)

A PCR-based assay using Luminex (Universal Tag/Bead-based sorting system) technology, available as an RUO (Research Use Only) kit from Tm Bioscience (Toronto, Canada), is used. The method involves a multiplex PCR amplification of target exons. Specific alleles are detected using allele-specific primer extension with detection on the Luminex instrument. This assay detects: the 84G->GG, IVS2(+1)G->A, N370S, delta55bp, V394L, D409H, L444P, and R496H mutations in Gaucher disease; the delta7.6kb, R247W, R249W, G269S IVS9(+1)G->A, 1278insTATC, and IVS12(+1)G->C mutations in Tay-Sachs disease; the 433(-2)A->G, E285A, Y231X (C->A & C->T), and A305E mutations in Canavan disease; the R696P and IVS20(+6)T->C mutations in familial dysautonomia; the 2281del6/ins7 mutation in Bloom syndrome; the 322delG and IVS4(+4)A->T mutations in Fanconi anemia; the L302P, fsP330, R496L, and deltaR608 mutations in Niemann-Pick disease types A and B; and the delta6.4kb and IVS3(-2)A->G mutations in mucolipidosis type IV. (Fulton R, McDade R, Smith P, et al: Advanced multiplexed analysis with the FlowMetrix system. Clin Chem 1997;43:1749-1756; Ye F, Li MS, Taylor JD, et al: Fluorescent microsphere-based readout technology for multiplexed human single nucleotide polymorphism analysis and bacterial identification. Hum Mutat 2001 Apr;17[4]:305-316)

Tuesday; 10 a.m.