Carrier screening or diagnostic testing for Niemann-Pick disease type A for individuals of Ashkenazi Jewish descent.
Polymerase Chain Reaction/Fluorescence Monitoring
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes.
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month
Background information for Niemann-Pick Type A (SMPD1), 4 Variants:
Characteristics: Niemann-Pick type A is a lysosomal storage disease causing hepatosplenomegaly, delayed physical and mental development, hypotonia, rigidity, intellectual disability, and death typically by age 3.
Incidence: 1 in 32,000 Ashkenazi Jewish individuals.
Inheritance: Autosomal recessive.
Cause: SMPD1 pathogenic variants.
Variants Tested: p.L304P (c.911T>C), p.F333Sfs (c.996delC), p.R498L (c.1493G>T), and p.R610del (c.1829_1831delGCC).
Clinical Sensitivity: 90 percent in Ashkenazi Jewish individuals, varies by ethnicity in non-Ashkenazi Jewish individuals.
Methodology: Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Variants other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|0051460||Niemann-Pick Type A (SMPD1), Allele 1||32641-3|
|0051461||Niemann-Pick Type A (SMPD1), Allele 2|
|0051462||Niemann-Pick Type A (SMPD1), Interp||34518-1|
|2001335||Niemann-Pick Type A (SMPD1), Specimen|
- SMPD1 mutation assay