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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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Wolman Disease/CESD tests available.

Wolman Disease | CESD | Cholesteryl Ester Storage Disease

(Click the blue dot to view test details. Red dot = current test.)
Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Enzyme Analysis Lysosomal Acid Lipase Analysis
Test Code: 4504
Acid Lipase Enzyme Analysis
Test Code: 4500

We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363.
Sequence Analysis LIPA Sequence Analysis
Test Code: 6430
LIPA Sequence Analysis
Test Code: 6435

This test can only be performed if there is a previously identified familial mutation.
LIPA Sequence Analysis
Test Code: 6440

We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363.


Lysosomal Acid Lipase Analysis
Test Information: This test provides enzymatic analysis of Acid Lipase for Confirmation of Clinical Diagnosis.

Acid Lipase is deficient in Wolman Disease and/or Cholesteryl Ester Storage Disease.
Test Details
Test Code: 4504
Special Notes: This test can also be performed on Liver (#4502) and Skin Fibroblast Culture (#4503).

Results from this test are not useful for Carrier Testing. Please note, carriers may have Acid Lipase levels in the normal range.
Technical Information
Methodology: Radiometric
Gene Name: LIPA
Protein Name: Lysosomal acid lipase/cholesteryl ester hydrolase
Test Type: Enzyme Analysis
References Values or Ranges: Normal Range: 20-200 pmol/min/mg protein
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: White Blood Cells (WBC)
Requirements: Draw blood in an ACD (yellow-top) tube(s) and send 7-10 cc (Adults/Children) and 3-5 cc (Infant<2yrs)
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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