Niemann-Pick disease A/B : SMPD1 Sequencing

Test Information

SMPD1 sequencing is a molecular test used to identify variants in the gene associated with Niemann-Pick A/B disease.

Turnaround Time

3 weeks

CPT Code(s)

81479

Cost

$800

Genes

Clinical Information

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

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.

Methodology

Sanger Sequencing

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 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. 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.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Molecular Testing, Newborn Screening Follow-Up, Sanger Sequencing
Meet Ella

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with Dr. Roger Stevenson ...

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