ARUP's Laboratory Test Directory

Niemann-Pick, Type A (SMPD1) 4 Mutations : 0051458
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Patient History For Molecular Genetic Testing
  


Mnemonic: SMPD1

Ordering Recommendation: Diagnostic testing for Niemann-Pick disease, type A. Carrier screening for Niemann-Pick disease, type A.
Methodology: Polymerase Chain Reaction/ASPE Bead Array
Performed: Tue, Thu
Reported: 7-10 days
Specimen Required: Collect: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature: Refrigerated.

Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval:
By report
Interpretive Data: Background information for Niemann-Pick, Type A (SMPD1) 4 Mutations:
Characteristics: Lysosomal storage disease causing hepatosplenomegaly, delayed physical and mental growth, hypotonia, rigidity, mental retardation, and death by age 3.
Incidence: 1 in 32,000 Ashkenazi Jewish individuals, unknown in other ethnicities.
Inheritance: Autosomal recessive.
Cause: Deleterious SMPD1 gene mutations.
Mutations Tested: L302P, 1bp del fsP330, R496L, R608del.
Clinical Sensitivity: 99 percent in Ashkenazi Jewish individuals, unknown in other ethnicities.
Methodology: PCR and allele-specific primer extension by bead array with fluorescence detection.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Mutations other than L302P, 1bp del fsP330, R496L, R608del will not be detected. Rare diagnostic errors may occur due to primer site mutations.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
CPT Code(s): 81330