- 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
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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: PathogenicSMPD1 gene mutations.
Mutations Tested: p.L304P (c.911T>C), p.F333Sfs (c.996delC), p.R498L (c.1493G>T), and p.R610del (c.1829_1831delGCC).
Clinical Sensitivity: 99 percent in Ashkenazi Jewish individuals, unknown in other ethnicities.
Methodology: Multiplex polymerase chain reaction and Detection Primer Extension.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Mutations other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.
See Compliance Statement C: www.aruplab.com/CS
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|0051460||NPD-A (SMPD1) 4 Mutations, Allele 1||32641-3|
|0051461||NPD-A (SMPD1) 4 Mutations, Allele 2|
|0051462||NPD-A (SMPD1) 4 Mutations, Interp||34518-1|
|2001335||NPD-A (SMPD1) 4 Mutations, Specimen|
- SMPD1 mutation assay