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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Genetics Laboratories
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Medical Genetics Test Details

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Lysosomal Acid Lipase Deficiency/CESD tests available.

Wolman Disease | CESD | Cholesteryl Ester Storage Disease

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Enzyme Analysis Lysosomal Acid Lipase Analysis
Test Code: 4504
Lysosomal 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: White blood cells are prepared from whole blood. The radio labeled substrate glycerol trioleate is used in the enzyme assay. This natural substrate is preferred as no additional Lalistat inhibition is required as in fluorometric enzyme assay due to interference from other lipases in the specimen.
Gene Name: LIPA
Protein Name: Lysosomal acid lipase/cholesteryl ester hydrolase
Test Type: Enzyme Analysis
References Values or Ranges: Normal Range: 20-300 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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