For patients with mutations not identified by full gene sequencing, a separate deletion/duplication assay is available using a targeted CGH array KO.
Approximately 90% of autosomal dominant optic atrophy patients carry a mutation in OPA1. This assay will detect sequence variants in the coding region and splice junctions. Large deletion and insertion mutations will not be detected by this assay. It is possible that some patients with typical presentation may not carry a mutation detected by this analysis.
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) or ACD (yellow 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
- A deletion/duplication assay is available separately for individuals where mutations are not identified by sequence analysis. Refer to the test requisition or contact the laboratory for more information.
- 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.