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Laboratory Test Directory

POLG Gene Sequencing

Components

Name Method Department Units
POLG Gene Sequencing Analysis of the entire coding region: Sequence analysis
Polymerase chain reaction (PCR)
Sanger sequencing
DNA extraction
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

4 mL 4 mL- 8mL
Stability

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not centrifuge
  • Do not freeze

Reasons for Rejection

  • Centrifuged specimen
  • Frozen specimen
  • Wrong collection tube
  • Clotted specimen
  • Delayed or improper handling

Comments

Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended but not required.

This test is a full gene sequencing analysis of the POLG gene. Pathogenic variants (mutations) in the POLG gene (also known as POLG1) are associated with a number of disorders including Alpers-Huttenlocher Syndrome (AHS), childhood myocerebro-hepatopathy spectrum (MCHS), myoclonic epilepsy, myopathy and sensory ataxia (MEMSA spectrum), ataxia neuropathy spectrum (ANS), autosomal recessive progressive external ophthalmoplegia (arPEO), autosomal dominant progressive external ophthalmoplegia (adPEO), and valproic acid (VPA) induced liver failure in patients with seizures. New phenotypes associated with pathogenic variants in POLG continue to be described. While clinical diagnostic criteria do not exist, establishing the diagnosis of a POLG-related disorder requires identification of two (biallelic) POLG pathogenic variants for each of the above phenotypes except adPEO (for which identification of one dominant POLG pathogenic variant is diagnostic). Most affected individuals have some, but not all, of the features of a given phenotype.

Targeted mutation analysis for this gene is available for other family members when familial mutation is known (see Test Code: FMLIS).

Forms

Lab Form

CPT Code

  • 81406