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HelpEpic Test Code LAB101011 Muscular Dystrophy Advanced Evaluation
Additional Codes
Athena Code: 5501
Type of Disorder
Neuromuscular Disorders
Disease(s) Tested for:
Muscular Dystrophy
Specimen Type
Whole Blood
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 day
Frozen: Unacceptable
Transportation Needs
Room temperature
Reference Values
No mutations detected. No deletions or duplications detected
Test Turnaround
21-28 days
Clinical Significance
Detects sequence variations in 33 genes, including duplications/deletions in 4 of these genes.
Typical Presentation: Muscle weakness and wasting of variable and heterogeneous severity, age of onset, rate of progression, mode of inheritance, and complications.
Methodology
Next Generation Sequencing, Dosage Analysis
CPT Code
81161, 81404(4), 81405(9), 81406(7), 81408(2), 81479
Last Updated
23-Aug-21
Specimen Requirements
8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum)
Additional Information
MUST HAVE SIGNED CONSENT
Genes Included
| ANO5, CAPN3, CAV3, CCDC78, DAG1, DES, DMD, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, ISPD, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, PTRF, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, SYNE2, TCAP, TMEM43, TRAPPC11, TRIM32, TTN |
Instructions
Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood