Niemann Pick A/B (SMPD1) Sequencing

Disorder Niemann Pick A/B Disease
Gene Name SMPD1
Clinical info Patients with Niemann-Pick disease type A typically present in early childhood with hepatosplenomegaly, failure to thrive, cherry red macular spot, pulmonary infiltration and significant neurologic degeneration. Patients with Niemann-Pick disease type B have a later age of onset and present with hepatosplenomagaly and pulmonary infiltration, but have a milder or absent neurological phenotype. Foam cells can be detected in the bone marrow of patients with both subtypes.
Indications The enzyme assay for acid sphingomyelinase activity is considered diagnostic for Niemann Pick A/B disease. However, the enzyme assay is not a reliable method for carrier detection. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.
Associated Tests Acid sphingomyelinase enzyme analysis is available through the GGC Biochemical Lab.
Detection This analysis includes full sequencing of the coding region of the SMPD1 gene.  Greater than 95% of patients are expected to have a detectable sequence variant.
Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred.  The minimal blood needed for reliable DNA isolation is 3 ml.
Transport The specimen should be kept at room temperature and delivered via overnight shipping.  FedEx is preferred.  If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature.  Do not freeze the specimen.  Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 3 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes Unknown mutation: 81479

Known mutation: 81403

Deletion/Duplicaton Analysis: 81479
Cost $800 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

$1000 for prenatal known mutation analysis
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

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