Congenital Muscular Dystrophy Advanced Sequencing Evaluation

Test Code
5502

Test Details


Test code: 5502
Type of disorder: Neuromuscular Disorders
Disease(s) tested for: Congenital Muscular Dystrophy
Genes Included: B3GALNT2, B3GNT1, CHKB, COL6A1, COL6A2, COL6A3, DNM2, DPM2, FHL1, FKRP, FKTN, ISPD, ITGA7, LAMA2, LARGE, LMNA, POMGNT1, POMGNT2, POMT1, POMT2, SEPN1, TCAP, TMEM5
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information


Clinical Significance: Detects sequence variations in 23 genes associated with progressive muscle weakness evident at birth or early infancy.

Typical Presentation: Progressive muscle weakness evident at birth or early infancy. Symptoms may also include hypotonia, delayed motor development, dystrophic features on muscle biopsy, and elevated creatine kinase.
Methodology: Next Generation Sequencing
Reference Range: No mutations 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: 81443(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

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