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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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Dystrophinopathies (DMD) tests available.

Duchenne Muscular Dystrophy (DMD) | Becker Muscular Dystrophy (BMD) | DMD-Related Dilated Cardiomyopathy

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis DMD Deletion/Duplication Analysis
Test Code: 6350
DMD Deletion/Duplication
Test Code: 6351

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.
Sequence Analysis DMD Sequence Analysis
Test Code: 6084
DMD Sequence Analysis
Test Code: 6085

This test can only be performed if there is a previously identified familial mutation.
DMD Sequence Analysis
Test Code: 6139

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.


DMD Sequence Analysis
Test Information: This test is indicated for: Males with a clinical diagnosis or symptoms of Duchenne or Becker Muscular Dystrophy (DMD/BMD); Females who are at risk to be a carrier or have a family history of DMD/BMD. This test is useful for patients previously tested and found not to have deletions or duplications in the DMD gene. Deletion/duplication testing can be ordered under test code (#6350)
Test Details
Test Code: 6084
Special Notes: We recommend that deletion/duplication analysis of the dystrophin gene (test #6350) be performed prior to sequence analysis.

If the mutation to be tested in this individual is one previously identified in an affected family member, or for Carrier Testing with known familial mutation(s), please order test (#6085). Please see detailed requirements under this test code.
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions to detect point mutations, or small deletions within the DMD gene exons and intron-exon boundaries.
Gene Name: DMD
Protein Name: Dystrophin
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 ambient temperature (18-25C/64-77F) 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: 81408x1


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