Mitochondrial DNA (mtDNA) Point Mutations and Deletions Build info

Synonyms

  • MTDNA POINT MUTATIONS AND DELETIONS
  • MITOMUT
  • LAB11629

Short Name

MTDNA POINT MUTATIONS AND DELETIONS

Procedure Master Number

LAB11629

Procedure ID

115573

Clinical Info

Molecular confirmation of a clinical diagnosis
Testing of patients suspected of having a mitochondrial disorder

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube: Lavender EDTA top or Tissue Biopsy (muscle or liver)
Specimen: Whole Blood: Adults: 2-5 ml; Children: 1-2 ml;
Tissue - Submit >50 mg, frozen within minutes after collection
Transport Temperature: Room Temperature Whole Blood, Tissue Frozen
Ship blood separately, overnight at ambient temperature, using a cool pack in hot weather. DO NOT FREEZE BLOOD. Blood specimens may be refrigerated for up to 7 days prior to shipping

Transport Instructions

Room Temperature Whole Blood, Tissue Frozen

Specimen Stability

Methodology

Next-Gen Sequencing

Days Performed

TAT: 3-4 Weeks

Performing Laboratory

GeneDx Test Code 704

CPT

81465
81460

PDM

5902712

Results