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Test ID: AJP
Ashkenazi Jewish Mutation Analysis Panel With Cystic Fibrosis (CF)

Method Description Describes how the test is performed and provides a method-specific reference

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; the delta6.4kb and IVS3(-2)A->G mutations in mucolipidosis type IV; and the 23 mutations specified by ACMG standards for cystic fibrosis in addition to 1078delT, Y122X, R347H, V520F, A559T, S549N, S549R, 1898+5G->T, 2307insA, Y1092X, M1101K, S1255X, 3876delA, 3905insT, 394delTT, and 2183 AA->G 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 Apr;17[4]:305-316)

 

An alternative ordering option is AJPWO/88887 Ashkenazi Jewish Panel without Cystic Fibrosis which includes analysis for all mutations listed above EXCEPT those associated with cystic fibrosis.

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.

Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.

3 days

Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result

10 days

Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Whole Blood: 2 weeks (if available) Extracted DNA: 3 months

Performing Laboratory Location The location of the laboratory that performs the test

Rochester