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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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MEF2C - Related Disorders tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Sequence Analysis MEF2C Sequence Analysis
Test Code: 6695
MEF2C Sequence Analysis
Test Code: 6696

This test can only be performed if there is a previously identified familial mutation.
MEF2C Sequence Analysis
Test Code: 6697

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.


MEF2C Sequence Analysis
Test Information: Confirmation of Clinical Diagnosis
Test Details
Test Code: 6695
Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#6696). Please see detailed requirements under this test code.

Le Meur N, et al. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.. J Med Genet. 2010 Jan;47(1):22-9.
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions
Gene Name: MEF2C
Protein Name: Myocyte enhancer factor 2C
Test Type: Sequence Analysis
Sample & Shipping Information
Test Requisition: Molecular Diagnostics
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s) 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: 28 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479x1


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