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Houston, Texas

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Medical Genetics Test Details

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Carnitine Biosynthesis Panel - Urine
Urinary Carnitine Biosynthesis Panel | EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY | TMLHED | AUTISM SUSCEPTIBILITY TO X-LINKED 6 | AUTSX6
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: 4135
Special Notes: This test can be performed on Plasma (#4145) 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
References Values or Ranges: Normal Ranges for:

Trimethyllysine: less than 2 yr, 4-14 mmoles/mole creatinine; 2 yr and above, 8-21 mmoles/mole creatinine

Gamma-Butyrobetaine: less than 2 yr, 0.03-0.8 mmoles/mole creatinine: 2 yr and above, 0-1.1 mmoles/mole creatinine

Carnitine: less than 2 yr, 1.7-16 mmoles/mole creatinine: 2 yr and above, 2-33 mmoles/mole creatinine
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: Urine
Requirements: Send 2-4 cc of a random urine. Do not add preservatives. Store the specimen frozen at -20C.
Shipping Conditions: Ship frozen on 3-5 lbs of 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: 82570 x 1, 83789 x 3


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