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Genetic Labs

Houston, Texas

Genetic Laboratory
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Medical Genetics Test Details

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TMLHE Deficiency tests available.

EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY | TMLHED | AUTISM SUSCEPTIBILITY TO X-LINKED 6 | AUTSX6

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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.


TMLHE Exon 2 Deletion Analysis
Test Information: Confirmation of Clinical Diagnosis
Test Details
Test Code: 2513
Special Notes: Deletions involving exon 2 of the TMLHE gene are the most common cause of TMLHE deficiency. This analysis will detect hemizygous/homozygous and heterozygous deletions of exon 2. It is a quick and inexpensive screening for exon 2 deletions.

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: Regular PCR and quantitative PCR are performed. Copy number of exon 2 is evaluated by a combination of these two methodologies.

Technical limitation:

This analysis will detect large deletions involving exon 2 only. It cannot delineate breakpoints or the number of exons involved in deletions. Thus, a positive result warrants further study, such as a microarray, in order to delineate breakpoints.
Gene Name: TMLHE
Protein Name: trimethyllysine hydroxylase, epsilon
Test Type: Deletion/Duplication Analysis
Sample & Shipping Information
Test Requisition: Molecular Diagnostics
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tubes and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 0 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479x1


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