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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.

Sphingomyelinase is deficient in Acid Sphingomyelinase Deficiency.
Test Details
Test Code: 4607
Special Notes: The Preferred Sample Type for this assay is White Blood Cells (#4608).

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:
Skin Fibroblasts: 1.1-8.0 nmol/min/mg protein
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: Skin Fibroblast Culture
Requirements: Send two T-25 flasks at approximately 60% confluence in an insulated container.
Shipping Conditions: Ship at ambient temperature by overnight courier.

Turn Around Time: 21 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 82658 x 1, 84157 x 1, 88233 x 2, 88240 x 1


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