INDICATION-SPECIFIC GENE PANEL TESTING
Dystrophinopathy (DMD) Panel
- This panel includes both full sequencing and high resolution deletion/duplication analysis.
- Detection abilitiy is limited to the genes specified; it does not provide whole genome analysis.
PANEL OVERLAP: The gene on this panel is included on other panels offered by our laboratory.
DISORDERS INCLUDED IN THIS PANEL:
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
NOTE: Each of the tests recommended for comprehensive testing can be ordered individually if the comprehensive package is not desired.
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)
- 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.
- 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: