One Known Familial Variant in a Nuclear Gene
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))
Methodology
Sanger
Biomarkers
Result Turnaround Time
21 days
Related Documents
For more information, please review the documents below
Specimen
Extracted DNA
Volume
Not provided
Minimum Volume
Not provided
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