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DNA Analysis:
Niemann-Pick Disease Type A
Carrier Testing
Niemann-Pick disease type A is a lysosomal storage disorder typically diagnosed in infancy. The disease is characterized by a rapid neurodegenerative course that results in reduced life expectancy. Niemann-Pick disease type A is caused by mutations in the SMPD1 gene and subsequent deficiency of the enzyme sphingomyelinase. The carrier risk for Niemann-Pick disease type A in the Ashkenazi Jewish population is 1 in 90.
Niemann-Pick disease type A carrier testing by DNA analysis is offered as part of a genetic screening panel for the Ashkenazi Jewish population which includes mucolipidosis IV, Bloom syndrome, and glycogen storage disease type 1A. See Ashkenazi Jewish Genetic Screening - Panel 2 for testing information.
- Carrier screening
- Gamete donors
Direct mutation analysis: Our laboratory utilizes Amplification Refractory Mutation System (ARMS) technology to screen for 3 mutations relevant to the Ashkenazi Jewish population. The 3 mutations are R496L, L302P, and fsP330.
The carrier detection rate for DNA analysis of Niemann-Pick disease type A in the Ashkenazi Jewish population is 92%.
This carrier screening test is most appropriate for individuals of Ashkenazi Jewish descent. This test may not be appropriate for individuals from other ethnic backgrounds. The sensitivity of this carrier screen in non-Jewish populations has not been established. This test is not appropriate for fetal diagnosis or diagnosis of individuals with clinical phenotype.
Blood: 5 cc whole blood collected in a purple top (EDTA) or yellow top (acid citrate dextrose) vacutainer tube. Do not centrifuge or freeze. Sample may be refrigerated or stored at room temperature.
14 days
83891, 83894, 83900, 83901 (4X), 83912
> Medical Genetics Test Requisition Form
> Standard DNA Consent Form
> Medical Genetics Specimen Transport and Shipping Information
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