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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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Cerebrospinal Fluid Carnitine Biosynthesis Panel
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: 4155
Special Notes: This test can be performed on Urine (#4135) or Plasma (#4145).

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: Cerebrospinal Fluid
Requirements: Send 1-2 cc of cerebrospinal fluid. Store the specimen frozen at -20C. Specimen may be stored frozen for up to 7 days.
Shipping Conditions: Ship frozen on dry ice in an insulated container by overnight courier.



Turn Around Time: 15 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 83789 x 3


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