POLG Gene / POLG-Related Mitochondrial Disorders

Test details
Genes	POLG
Medical Speciality	Mitochondrial Disorders
Disorders	Alpers syndrome (Alpers-Huttenlocher syndrome) Chronic Progressive External Ophthalmoplegia (CPEO) Optic Atrophy
Clinical Utility	Confirmation of biochemical and clinical diagnosis Carrier testing Prenatal diagnosis when familial mutations are known

Ordering
Test Code	GD394
Turn Around Time	4-5 weeks
Collection Instructions	LAV: Fill lavender-top (EDTA) tube completely, invert 8-10 times. DO NOT SHAKE TUBE!

BILLING
ICD CODES	277.87 DISORDERS OF MITOCHONDRIAL METABOLISM

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