Niemann-Pick Disease

Test Description:
Niemann-Pick disease (NPD) is an autosomal recessive neurodegenerative lysosomal storage disease resulting from the deficiency of the enzyme acid sphingomyelinase. There are two types of NPD with distinct phenotypes, Types A and B, caused by different mutations in the same SMPD1 gene. NPD-A is more severe and more prevalent in the Ashkenazi Jewish population with a carrier frequency of approximately 1 in 115. Features include loss of brain function and hepatosplenomegaly. Average life expectancy for NPD-A is 2-3 years of age. Three NPD-A mutations account for the majority of Ashkenazi Jewish carriers for NPD [p.L304P (L302P), c.996delC (fsP330), p.R498L (R496L)]. A panethnic recurrent mutation found in NPD Type B p.R610del (delR608) is also tested. Screening for these four mutations is expected to detect approximately 97% of carriers in the Ashkenazi Jewish population. The American College of Medical Genetics recommends that carrier screening for MLIV be offered to individuals with at least one grandparent of Eastern European (Ashkenazi) Jewish ancestry before/during pregnancy.

References:
1. Levran O, et al. Proc. Natl. Acad. Sci, USA. 88:3748-3752.
2. Levran O, et al. Blood, 80:2081-2087, 1992.
3. Levran O, et al. Hum. Mut. 2:317-319, 1993.
4. Scott, S.A., Edelmann, L., Liu, L., Luo, M., Desnick, R.J. and Kornreich, R. Experience with carrier screening and prenatal diagnosis for sixteen Ashkenazi Jewish Genetic Diseases. Hum. Mutat. 31:1-11, 2010.

Specimen Requirements:
Two 5-10 ml tubes of anticoagulated blood. The preferred anticoagulant is EDTA (lavendar top tubes), ACD (yellow top) tubes are also accepted.

Shipping: Send at room temperature.

Turnaround Time: 10-14 days

CPT Codes: 83891, 83892x2, 83900, 83912, 83914x4

Consent and Requisition Forms: Carrier Screening Requisition and Consent [PDF]

Additional Information: Jewish Genetic Screening Brochure [PDF]

Related Tests: Ashkenazi Jewish Carrier Test Panel

Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.