Myotonic Syndrome Advanced Evaluation

Test Code

901617

CPT Codes
81187, 81234, 81404, 81406 (x2), 81479 (x2)<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 EDTA (lavender-top) tube(s), or
Pediatric 0-3 years: 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

Methodology
Next Generation Sequencing, Southern Blot

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 5 genes and repeat expansions in 2 genes known to cause myotonia, an impaired ability to relax skeletal muscles following a contraction. Myotonias may be dystrophic (termed myotonic dystrophy).

The CPT Codes provided in this document 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 payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.