|
|
| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Myotonic Syndrome Advanced Evaluation
Test Code901617
CPT Codes
81404, 81406 (x2), 81187, 81234, 81479<br>CPT coding may differ dependent on payer rules which may impact prior authorization testing.<br>Please direct any questions regarding CPT coding to the payer being billed.<br><br>This test is not available for New York patient testing<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.
Preferred Specimen
8 mL whole blood collected in an EDTA (lavender-top) tube
Pediatric (0-3 Years): 2 mL
Pediatric (0-3 Years): 2 mL
Minimum Volume
6 mL • Pediatric: 1 mL
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 • 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 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).
