Niemann-Pick Disease, DNA Analysis

CPT 81330
  • Acid Sphingomyelinase Gene
  • Jewish Heritage Test

Test Details


Identification of carrier and affected individuals for four mutations associated with Neimann-Pick disease, types A and B. Prenatal testing is available.

Special Instructions

If cultured cells are needed, an additional 7-12 days may be required. Additional culture fee may be included.


This test detects approximately 95% of the mutations responsible for Niemann-Pick disease, types A and B in Ashkenazi Jews. The mutations detected are L302P, R496L, fsP330, and ΔR608. Other mutations are not detected.


Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis


American College of Obstetricians and Gynecologists Committee on Genetics. ACOG committee opinion. Nº 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol. 2004 Aug; 104(2):425-428. 15292027
Monaghan KG, Feldman GL, Palomaki GE, Spector EB; Ashkenazi Jewish Reproductive Screening Working Group; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population. Genet Med. 2008 Jan; 10(1):57-72. 18197058
Schuchman EH, Miranda SR. Niemann-Pick disease: Mutation update, genotype/phenotype correlations, and prospects for genetic testing. Genet Test. 1997; 1(1):13-19 (review). 10464620

Additional Information

Niemann-Pick disease (OMIM 257200 and 607616) is a lysosomal storage disorder that is characterized by failure to thrive and hepatosplenomegaly. There are at least five different reported subtypes. This test only analyzes mutations found in types A and B and has a detection rate of 95% for Ashkenazi Jewish individuals. Approximately 1 in 90 persons of Ashkenazi Jewish descent are carriers for Niemann-Pick disease. Type A is the infantile form that generally leads to death in early childhood. Type B is often called the chronic or non-neuropathic form in which affected individuals have absence of neurologic involvement and prolonged survival. Type C has a slower onset of symptoms and is considered the juvenile form. Type D appears to be isolated to a certain population in Nova Scotia, and type E is adult-onset Niemann-Pick. This test does not provide information about types C, D, and E. This test has limited value for people of non-Ashkenazi Jewish ancestry, as the mutation detection rate is negligible. DNA test results must be combined with clinical information for the most accurate interpretation.

Specimen Requirements

Information on collection, storage, and volume


Whole blood, amniotic fluid, chorionic villus sample (CVS) (submission of maternal blood is required for fetal testing), or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)


7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS, or LabCorp buccal swab kit

Minimum Volume

3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs


Lavender-top (EDTA) tube, yellow-top (ACD) tube, sterile plastic conical tube or two confluent T25 flasks for fetal testing, or LabCorp buccal swab kit

Storage Instructions

Maintain specimen at room temperature or refrigerate.

Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab