Dystrophinopathy (DMD) Panel

INDICATION-SPECIFIC GENE PANEL TESTING

Dystrophinopathy(DMD)_Panel

 

 

Dystrophinopathy (DMD) Panel

 

 

  

DETECTION ABILITIES:

  • This panel includes both full sequencing and high resolution deletion/duplication analysis.
  • Detection ability is limited to the genes specified; it does not provide whole genome analysis.

GENES COVERED: 

DMD

PANEL OVERLAP:   The gene on this panel is included on other panels offered by our laboratory.

 

DISORDERS INCLUDED IN THIS PANEL:

  • Dystrophinopathies GeneReviews™
    • Duchenne muscular dystrophy (DMD)
    • Becker muscular dystrophy (BMD)
    • DMD-related dilated cardiomyopathy

INDICATIONS FOR TESTING: 

  • Developmental delay
  • Gross motor delay or loss of motorskills
  • Low muscle tone
  • Calf hypertrophy
  • Abnormal gait
  • Dilated cardiomyopathy
  • Elevated serum CK
  • Skeletal muscle biopsy showing decreased dystrophin quantity 

OUR LABORATORY'S RECOMMENDED TESTING STRATEGY 

Comprehensive Testing:  Dystrophinopathy (DMD)

Deletion/Duplication Analysis with reflex to Next Generation Sequencing Panel

Targeted Deletion/Duplication Testing

  • Deletion/Duplication Analysis of the is performed to identify partial or whole gene deletions and duplications responsible for the patient’s phenotype. Deletion/Duplication Analysis only evaluates the DMD gene.

Next Generation Sequencing

  • The combination of high resolution deletion/duplication analysis and full-gene sequencing allows for the detection of gene-specific deletions or duplications and sequence-based mutations in DMD. This panel will not detect other types of genetic aberrations.

NOTE: Each of the tests recommended for comprehensive testing can be ordered individually if the comprehensive package is not desired.

COMPLEMENTARY TESTING:

NOTE: For questions regarding testing strategies or the usefulness of complementary testing for your patient, please call our laboratory at 402-559-5070 and ask to speak with a laboratory genetic counselor.

  

REQUIRED FORMS:   Postnatal Test Request Form

OTHER FORMS:   Request for Pre-Authorization for Genetic Testing (Postnatal Diagnoses on peripheral blood)  


SPECIMEN COLLECTION & SHIPPING

SPECIMEN REQUIREMENTS: 

  • Blood >3 mo of age: 3-5 ml in an EDTA tube (purple top)
  • Blood (newborn minimum requirement): 1 ml in an EDTA tube (purple top)
  • Buccal swab*: kits available upon request
  • Extracted DNA: 5 μg 

*Buccal swabs may not yield an adequate amount of DNA for next generation sequencing. Please contact our laboratory before sending buccal swabs for this testing methodology.


CPT CODES: 

  • Targeted Deletion/Duplication Testing: 81161
  • Next Generation Sequencing: 81408

PRICING:   Contact the laboratory billing staff for current costs. 


TURN-AROUND-TIME:   Results are typically available in ­2-6 weeks. 


LINKS and REFERENCES: 


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contact us
Phone:  402-559-5070 
1-800-656-3937 x95070
Fax:  402-559-7248
humangenetics@unmc.edu

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