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Early Onset Myotonia Evaluation
Test Code901325
CPT Codes
81234, 81406 (x2)<br /> Restricted Client 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.
Includes
DNA Sequencing Test, DM1 DNA Testing, SCN4A DNA Sequencing Test
Indications for testing: Proximal and/or distal stiffness or weakness. Non-dystrophyc, non-syndromic myotonia with mild hypertrophy. Dystrophic but non-syndromic myotonia for differential
Indications for testing: Proximal and/or distal stiffness or weakness. Non-dystrophyc, non-syndromic myotonia with mild hypertrophy. Dystrophic but non-syndromic myotonia for differential
Preferred Specimen
8 mL whole blood collected in EDTA (lavender-top) tube(s)
Minimum Volume
6 mL
Instructions
Informed consent is required.
Note: Consider for patients < 2 years of age.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Shipping conditions: Avoid freezing.
Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.
Note: Consider for patients < 2 years of age.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Shipping conditions: Avoid freezing.
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
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing, Repeat Expansion, 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
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.
