MERRF mt DNA Evaluation

Overview

  • EPIC Code:
  • MISC
  • Soft Test Code:
  • MSOT
  • Send Out Test Code:
  • 518
Alternate Names
  • MERRF
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


Specimen Collection & Preparation

Client Notes

Contact the Laboratory at 66-1500 (Option 1) for the Payment requirements of this test.


Specimen Requirements

15.0 mL  Whole Blood in Three Lavender Top Tubes - EDTA


Transport And Storage

Refrigerate


Collection Instructions

 


Minimum Volume


Neonatal Volume

Clinical Interpretation

Reference Range:

No mutation detected


Methodology:
  • Polymerase Chain Reaction (PCR)
  • 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


Production Schedule

Sites Performed
  • Athena Diagnostics
Days Performed
Monday
Tuesday
Wednesday
Thursday
Departments
  • Sendouts - Miscellaneous
Turn Around Time

15 to 22 days


Coding & Compliance

CPT Coding

83891, 83892 x 4, 83898 x4, 83909, 83912