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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Genetics Laboratories
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Medical Genetics Test Details

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Dystrophinopathies (DMD) tests available.

Becker Muscular Dystrophy | Duchenne Muscular Dystrophy | DMD-Associated 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.
Next Generation Sequencing DMD-NGS-S
Test Code: 20145
Sequence Analysis DMD Sequence Analysis
Test Code: 6085

This test can only be performed if there is a previously identified familial mutation.
DMD Prenatal Sequence Analysis (GeneAware)
Test Code: 60312

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 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-NGS-S
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.
Test Details
Test Code: 20145
Special Notes: 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.

All coding exons of DMD and at least 20 base pairs of flanking intronic sequences are analyzed. All exonic variants and intronic variants within 20 bp of the exon/intron boundary will be reported. The NGS read depth is examined for evidence of large deletion/duplication mutations at the targeted regions. If detected, evidence of copy number change will be presented in the results and interpretation.

Targeted Array CGH analysis is available when copy number changes are still suspected (#6350).
Technical Information
Methodology: Targeted Capture followed by Massively Parallel Sequencing
Gene Name: DMD
Protein Name: Dystrophin
Test Type: Next Generation Sequencing
Sample & Shipping Information
Test Requisition: Molecular Diagnostics
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s). Send at least 5cc (children) or 10cc (adults).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Specimen Type: Purified DNA
Requirements: Send at least 20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Specimen Type: Saliva
Requirements: Collected with Oragene DNA Self-Collection Kit (provided by MGL with instruction).
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: 81408x1


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