Medical Necessity Documentation:
Client Notes:
Contact the Laboratory at 266-1500 (Option 1) for the Payment requirements of this test.
Patient Preparation:
Specimen Requirements:
20.0 mL Whole Blood in Five Lavender Top Tubes - EDTA
Collection Instructions:
Informed Consent Required
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 six mtDNA point mutations linked to MELAS syndrome
Type of Disorder: Neuromuscular Disorders
Typical Presentation: Features may include lactic acidosis, ophthalmoplegia, seizures, stroke-like episodes and ragged red fibers
Documentation:
Custom Panel:
No
PRODUCTION SCHEDULE
Turn Around Time:
15 to 22 days
Days Performed:
Monday, Tuesday, Wednesday, Thursday
Sites Performed:
Athena Diagnostics
PHL Test Code:
MSOT
EPIC Test Code:
MISC
Send Out Test Code:
517
Alternate Test Names:
MELAS
Included Tests:
MELAS 3243, MELAS 3252, MELAS 3256, MELAS 3271, MELAS 3291, and MELAS 13513
CPT Coding:
83891, 83892 x 5, 83898 x 6, 83904, 83909, 83912