Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis (CF)
Method Description Describes how the test is performed and provides a method-specific reference
A laboratory-developed multiplex PCR-based assay is used to detect the following mutations: 84G->GG, IVS2(+1)G->A, N370S, delta55bp, V394L, D409H, L444P, and R496H mutations in the GBA gene (Gaucher disease); delta7.6kb, R247W, R249W, G269S IVS9(+1)G->A, 1278insTATC, and IVS12(+1)G->C mutations in the HEXA gene (Tay-Sachs disease); 433(-2)A->G, E285A, Y231X (C->A and C->T), and A305E mutations in the ASPA gene (Canavan disease); R696P and IVS20(+6)T->C mutations in the IKBKAP gene (familial dysautonomia); 2281del6/ins7 mutation in the BLM gene (Bloom syndrome); 322delG and IVS4(+4)A->T mutations in the FANCC gene (Fanconi anemia); L302P, fsP330, R496L, and deltaR608 mutations in the SMPD1 gene (Niemann-Pick disease types A and B); and delta6.4kb and IVS3(-2)A->G mutations in the MCOLN1 gene (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;17:305-316)
PDF Report Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Tuesday; 10 a.m.