Muscular Dystrophy Advanced Evaluation

Test Code
5501

Test Details


Test code: 5501
Type of disorder: Neuromuscular Disorders
Disease(s) tested for: Muscular Dystrophy
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
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information


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
Reference Range: No mutations detected. No deletions or duplications detected.

CPT Coding


The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

CPT: 81404(4), 81405(9), 81406(8), 81408(2), 81161(1), 81479(1)

Specimen Requirements


Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Specimen Type: Whole blood
Specimen Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable
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)
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

Shipping Considerations


Transport Temperature: Room temperature
Set-up/Analytic Time: 21-28 days

Additional Resources

Letters of Medical Necessity

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