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Early Onset Myotonia Evaluation

Test Code
901325


CPT Codes
81234, 81406 (x2)<br><strong>CPT coding may differ dependent on payer rules which may impact prior authorization testing.</strong><br><strong>Please direct any questions regarding CPT coding to the payer being billed.</strong><br><br><strong>This test is not available for New York patient testing.</strong><br>Restricted Client Code

Includes
DNA Sequencing Test, DM1 DNA Testing, SCN4A DNA Sequencing Test

Note: Consider for patients < 2 years of age.
Indications for testing: Proximal and/or distal stiffness or weakness. Non-dystrophic, non-syndromic myotonia with mild hypertrophy. Dystrophic but non-syndromic myotonia for differential.


Preferred Specimen
8 mL whole blood collected in EDTA (lavender-top) tubes


Minimum Volume
6 mL


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

Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.


Transport Temperature
Room temperature


Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable


Methodology
Next Generation Sequencing • Repeat Expansion Detection by PCR • long-read 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
No sequence variants detected for CLCN1 and SCN4A genes. DM1 (DMPK) normal: 5-34 CTG repeats


Clinical Significance
Detects CTG repeat expansions in the DMPK gene, and point mutations in the CLCN1 and SCN4A gene.




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.