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Congenital Muscular Dystrophy Advanced Sequencing Evaluation
Test Code901614
CPT Codes
81404 (x2), 81405 (x2), 81406 (x4), 81407 (x3), 81408, 81479<br>Limited Access Code
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes, or
Pediatric volume: 2 mL whole blood
Pediatric volume: 2 mL whole blood
Minimum Volume
6 mL • 1 mL pediatric
Instructions
Overnight shipping preferred
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing
FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by the FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Varies; Report available: 21-28 days
Reference Range
See Laboratory Report
Clinical Significance
Tests for sequence variations in 23 genes associated with 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. Other organ systems including the heart, lungs, or brain may be involved.