C0207
CPEO (Chronic Progressive External Ophthalmoplegia) Mitochondrial Diseases
Test Details: Mitochondrial disorders are clinically heterogeneous and result from dysfunction of the mitochondrial respiratory chain, which can be caused by pathogenic variants in mitochondrial DNA (mtDNA) or in nuclear genes. Chronic progressive external ophthalmoplegia (CPEO) is a type of eye disorder characterized by slowly progressive inability to move the eyes and eyebrows. It is often the only feature of mitochondrial disease, in which case the term CPEO may be given as the diagnosis.
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Category
Molecular Genetics
Pre-test Information
Clinical and family history is required.
Report Delivery
4 working days
Gender
All
Organ
Eyes
CPEO (Chronic Progressive External Ophthalmoplegia) Mitochondrial Diseases
6050
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