MERRF mt DNA Evaluation

Last Modified: 5/17/2019 3:43:56 PM

Medical Necessity Documentation:  
Client Notes: Contact the Laboratory at 66-1500 (Option 1) for the Payment requirements of this test.
Patient Preparation:  
Specimen Requirements: 15.0 mL  Whole Blood in Three Lavender Top Tubes - EDTA
Collection Instructions:  
Transport & Storage: Temperature/Stability: Refrigerate
Reference Range: No mutation detected
Critical Ranges:  
Test Comments:  
Methodology: Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP)
Clinical Significance: Detects four mtDNA point mutations linked to MERRF syndrome

Type of Disorder: Neuromuscular Disorders 

Typical Presentation: Features may include myoclonus, ataxia, weakness, seizures, hearing loss and ragged red fibers
Custom Panel: No


Turn Around Time: 15 to 22 days
Days Performed: Monday, Tuesday, Wednesday, Thursday
Sites Performed: Athena Diagnostics
PHL Test Code: MERF
EPIC Test Code: LAB304095
Send Out Test Code: 518
Alternate Test Names: MERRF
Included Tests:  
CPT Coding: 83891, 83892 x 4, 83898 x4, 83909, 83912

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