Identification of carrier and affected individuals for four mutations associated with Neimann-Pick disease, types A and B.
Immediatley following collection, mix sample by inverting 8 - 10 times to prevent clotting
Lavender (EDTA), 10mL
ACD whole blood:
Yellow ACD (A or B)
Yellow ACD (A or B) or sterile vial/container
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.