One Known Familial Variant in a Nuclear Gene

Casandra

Casandra Test Code GE55329Version 1 (DRAFT)

Performing Lab

Lab GeneDxLab Test ID 9011

One Known Familial Variant in a Nuclear Gene

Clinical Use

Use

This test provides targeted variant analysis of a single known familial variant in a nuclear gene previously identified in a proband, intended to confirm carrier or familial risk status in relatives or for diagnostic confirmation. According to the Genetic Testing Registry (GTR) entry, it is used for confirmation of mutations identified previously. ([ncbi.nlm.nih.gov](https://www.ncbi.nlm.nih.gov/gtr/tests/575363/?utm_source=openai))

Special Instructions

Ordering requires specifying the gene(s) and variant(s) of interest, and informed consent may be necessary. It is designed as a mutation-specific or carrier testing service offered by GeneDx. ([ncbi.nlm.nih.gov](https://www.ncbi.nlm.nih.gov/gtr/tests/575363/?utm_source=openai))

Limitations

Performance is limited to detection of the specified known variant in a nuclear gene; the test does not detect other variants, novel mutations, or mitochondrial variants. Analytic validity indicates high sensitivity (>99%) via bi-directional Sanger sequencing, but coverage is restricted to the familial mutation. ([ncbi.nlm.nih.gov](https://www.ncbi.nlm.nih.gov/gtr/tests/575363/?utm_source=openai))

Test Details