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Early onset myotonia evaluation

Lab Section:  Sendout Reference  
Lab Location:  Sendout
Reference Lab: Athena Diagnostics 
Test ID: LAB7571 
Methodology: PCR, Fragment analysis, Southern Blot, DNA Sequencing
Schedule: Draw samples Mon-Thurs by 12 noon
Reported: 4 weeks, 2 days
Specimen Requirements:  Collection: 10.0 mL Whole Blood
Pediatric volume: 6 mL.
Athena DiagnosticsTest Consent forms must accompany the sample.Draw and send sample to Lab Mon-Thurs by 12 noon
Unacceptable conditions: Frozen
Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable

Notes: 

Clinical Indications: Detects CTG repeat expansions in the DMPK gene, and point mutations in the CLCN1 and SCN4A gene

Reference Interval:  See patient report or consult reference laboratory website.
CPT Code(s): 81401(1), 81406(2)
Last Changed: 12/21/2016 06:08:50
Last Reviewed: 12/21/2016 06:08:58