Reference IntervalNormal range/expected value(s) for a specific disease state. May also include abnormal ranges.
By report
Interpretive DataBackground information for test. May include disease information, patient result explanation, recommendations, details of testing, associated diseases, explanation of possible patient results.
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.
Compliance Category
Laboratory Developed Test (LDT)
NoteAdditional information related to the test.
Hotline History
N/A
CPT CodesThe American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory are provided for informational purposes only. The codes reflect our interpretation of CPT coding requirements based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare administrative contractor, as requirements may differ. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published.
* 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.
AliasesOther names that describe the test. Synonyms.
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