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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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Sphingomyelinase Enzyme Assay
Test Information: This test provides enzymatic analysis of Sphingomyelinase for Confirmation of Clinical Diagnosis of Niemann-Pick type A and B.
Test Details
Test Code: 4608
Special Notes: This test can also be performed on Skin Fibroblast Culture (#4607).

Results from this test are not useful for Carrier Testing. Please note, carriers may have Sphingomyelinase levels in the normal range.

The Ashkenazic Mutation Panel (#6047) is also available for Niemann-Pick Disease Type A testing. Enzyme Analysis and/or the Ashkenazic Mutation Panel (#6047) are not useful for the diagnosis of Niemann-Pick Disease Type C. Sequence Analysis for NPC1 (#6555) and NPC2 (#6560) are available for Nieman-Pick Disease Type C testing.
Technical Information
Methodology: Radiometric
Gene Name: SMPD1
Protein Name: Sphingomyelin Phosphodiesterase
Test Type: Enzyme Analysis
References Values or Ranges: Normal Range:
White Blood Cells: 30-120 pmol/min/mg protein
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: White Blood Cells
Requirements: Draw blood in a yellow-top (ACD) tube(s) and send 7-10 mL (> 3 years) or 5-7 mL (<2 years). Specimen should arrive in the laboratory within 36 hours from time of draw.
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier to arrive within 36 hours of collection. Do not heat or freeze.

Turn Around Time: 14 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 82658 x 1, 84155 x 1


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