Niemann-Pick disease, DNA analysis-13564
Test info
Jewish heritage test
Identification of carrier and affected individuals for four mutations associated with Neimann-Pick disease, types A and B.
Specimen
Immediatley following collection, mix sample by inverting 8 - 10 times to prevent clotting
Lavender (EDTA), 10mL
Amniotic fluid
CVS
ACD whole blood:
Yellow ACD (A or B)
Amniotic fluid:
Sterile vial/container
CVS - 20 mg (minimum 10 mg); submission of maternal blood is required for fetal testing
Yellow ACD (A or B) or sterile vial/container
Molecular Medicare Billing Request
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.
Ambient
Refrigerated
- Frozen specimen
- Hemolysis
- Quantity not sufficient for analysis (QNS)
- Improper container/anticoagulant
Performance
If cultured cells are needed, an additional 7-12 days may be required
Polymerase chain reaction (PCR); primer extension; flow- sorted bead array analysis
Clinical and Interpretive info
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.
Billing
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.