Congenital Myopathy Advanced Sequencing Evaluation

Test Code
5503

Test Details


Test code: 5503
Type of disorder: Neuromuscular Disorders
Disease(s) tested for: Congenital Myopathy
Genes Included: ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, KBTBD13, KLHL40, MEGF10, MTM1, MYBPC3, MYH2, MYH7, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3, TRIM32, TTN
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information


Clinical Significance: Detects sequence variations in 21 genes associated with stable, generalized weakness of varying severity at birth or in the first few months of life.

Typical Presentation: Generalized weakness of varying severity at birth or in the first few months of life. Symptoms may include delayed motor milestones, hypotonia, hypoactive tendon deep reflexes, and reduced muscle bulk.
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: 81406, 81407(2), 81408(2), 81479

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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