Unit Code 85319:
Familial Dysautonomia, Mutation Analysis, IVS20( 6T>C) and R696P
Method Description
A polymerase chain reaction (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 R696P and IVS20( 6)T->C mutations. (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;17[4]:305-316)
Performing Laboratory Location
Rochester
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