OPA1 Sequence Analysis (Familial Mutation/Variant Analysis)

Clinical Use

Use

The OPA1 Sequence Analysis (Familial Mutation/Variant Analysis) is designed to sequence the region of interest for a known familial variant(s) and can only be performed if there is a previously identified familial variant. A laboratory report containing the relative's variant information, the specific biological relationship of this patient and the tested relative, and the clinical status of this patient (symptomatic or asymptomatic) must be submitted with the specimen. If the original familial variant was identified in another laboratory, this testing must be discussed with one of our genetic counselors prior to sending a specimen. Indications for testing include symptomatic patients with a family history of optic atrophy type 1/known familial variant in OPA1 and carrier screening for patients planning a pregnancy with a known familial variant in OPA1.

Special Instructions

A laboratory report detailing the tested relative’s variant information, their biological relationship to the patient, and their clinical status must accompany the specimen. If the familial variant was identified by another lab, prior discussion with one of our genetic counselors is required before specimen submission.

Limitations

The test is only applicable if there is a documented familial variant. Limitations in sensitivity may exist in rare cases where variant detection may not be possible. False negatives can occur if the familial variant is not identified in previously drawn samples. The analysis is entirely dependent on submitted information, and accuracy in determining familial relationships is crucial.

Test Details