Niemann-Pick disease, DNA analysis

Alphabetical Test listing

Niemann-Pick disease, DNA analysis-13564

Niemann-Pick disease, DNA analysis
Acid Sphingomyelinase gene
Jewish heritage test

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

EDTA whole blood
7.0 mL
3.0 mL

Immediatley following collection, mix sample by inverting 8 - 10 times to prevent clotting


Lavender (EDTA), 10mL


ACD whole blood
Amniotic fluid

ACD whole blood:

Yellow ACD (A or B)



Amniotic fluid:

Sterile vial/container

Amniotic fluid - 10 mL (minimum 5 mL)
CVS - 20 mg (minimum 10 mg); submission of maternal blood is required for fetal testing

Yellow ACD (A or B) or sterile vial/container




  • Frozen specimen
  • Hemolysis
  • Quantity not sufficient for analysis (QNS)
  • Improper container/anticoagulant
LabCorp RTP (511329): R-LC
Two (2) times per week, or as needed
9 - 15 days
If cultured cells are needed, an additional 7-12 days may be required

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


An interpretive report will be provided


Prenatal testing is available.Niemann-Pick disease (OMIM 257200 & 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 beisolated 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.

Result 32641-3