Niemann-Pick Type A (SMPD1), 4 Variants
Ordering Recommendation

Carrier screening or diagnostic testing for Niemann-Pick disease type A for individuals of Ashkenazi Jewish descent.

Polymerase Chain Reaction/Fluorescence Monitoring
Tue, Fri
5-10 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. 
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month 
Reference Interval
By report
Interpretive Data
Background information for Niemann-Pick Type A (SMPD1), 4 Variants:
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.
Autosomal recessive.
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.
Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity:
Greater than 99 percent.
Variants other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Component Test Code*Component Chart NameLOINC
0051460Niemann-Pick Type A (SMPD1), Allele 132641-3
0051461Niemann-Pick Type A (SMPD1), Allele 2
0051462Niemann-Pick Type A (SMPD1), Interp34518-1
2001335Niemann-Pick Type A (SMPD1), Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
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