Mutations in the OPA1 gene, located on chromosome 3q28-q29, cause Kjer type autosomal dominant optic atrophy. OPA1 consists of 31 exons and encodes a mitochondrial dynamin-related GTPase, a protein thought to be involved in maintaining the structure and function of mitochondria. Approximately 90% of autosomal dominant optic atrophy patients carry a mutation in OPA1.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
- Leber Hereditary Optic Neuropathy (QC) is a mitochondrial disorder characterized by atrophy of the optic nerve.
- OPA3 gene sequencing.
- Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by sequencing. Prenatal testing may be available to couples who are confirmed carriers of OPA1 mutations. Please contact the laboratory genetic counselor to arrange prior to collecting a prenatal specimen.