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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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Carnitine Biosynthesis Panel - Plasma tests available.


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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Analyte Analysis Carnitine Biosynthesis Panel - Plasma
Test Code: 4145
Deletion/Duplication Analysis TMLHE Exon 2 Deletion Analysis
Test Code: 2513
Sequence Analysis TMLHE Sequence Analysis
Test Code: 2510
TMLHE Sequence Analysis
Test Code: 2511

This test can only be performed if there is a previously identified familial mutation.
TMLHE Sequence Analysis
Test Code: 2512

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.

Carnitine Biosynthesis Panel - Plasma
Test Information: The test is useful for the evaluation of patients suspected of having disorders of Carnitine Biosynthesis, e.g. X-linked Trimethyllysine Hydroxylase (TMLHE) Deficiency.
Test Details
Test Code: 4145
Special Notes: This test can be performed on Urine (#4135) and Cerebrospinal Fluid (CSF) (#4155).

NOTE: TMLHE Biochemical Analysis (test codes #4135, #4145 or #4155) should be performed prior to molecular analysis. Deletion/Duplication Analysis (test code #2513) should be performed prior to or concurrent with TMLHE Sequence Analysis (test code #2510). Deletion/duplication analysis analyzes for deletions involving exon 2 of the TMLHE gene which are the most common cause of TMLHE deficiency.
Technical Information
Methodology: Tandem Mass Spectroscopy
Test Type: Analyte Analysis
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: Plasma
Requirements: Draw blood in a Sodium Heparin (green-top) tube(s) and separate as soon as possible. Send 1-2 cc of plasma. Store the specimen frozen at -20C. Specimen may be stored frozen for up to 7 days.
Shipping Conditions: Ship frozen on 3-5 lbs of dry ice in an insulated container by overnight courier.

Turn Around Time: 22 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 83789x1

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