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Niemann-Pick Type A
MessageIntegrated Genetics test code: 557
Test Code
NIEMA
Alias/See Also
3001743
CPT Codes
81330
Preferred Specimen
7 mL whole blood from yellow-top (ACD) or lavender-top (EDTA)
Minimum Volume
3 mL whole blood
Transport Temperature
Room temperature or refrigerated
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Frozen
Hemolysis
Hemolysis
Methodology
Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis
Report Available
9 to 15 days
If cultured cells are needed, an additional 7-12 days may be required. Additional culture fee may be included.
If cultured cells are needed, an additional 7-12 days may be required. Additional culture fee may be included.
Limitations
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.
Reference Range
See Patient Report for Reference Range and/or Interpretation of Results
Clinical Significance
Identification of carrier and affected individuals for four mutations associated with Neimann-Pick disease, types A and B. Prenatal testing is available
Performing Laboratory
Integrated Genetics
