Self‑Pay Follow‑Up Testing for Familial Variant
Use
Targeted testing for a known familial variant (pathogenic or likely pathogenic) is less costly and more rapid than diagnostic analysis of the whole gene or gene panel and typically provides a straightforward “positive” or “negative” result. It may serve diagnostic, predictive, carrier, segregation analysis in families, or CLIA‑approved confirmation of variants discovered in research settings, including mitochondrial and mosaic variants when previously identified. When ordering, the variant in cDNA‑level notation (or protein/gDNA/sequence) and proband’s specimen ID is required. A positive control is recommended if the family member was not previously tested by GeneDx. Results are generally available in 2–3 weeks.
Special Instructions
To order, providers must submit the proband’s prior testing results, including gene and variant in appropriate notation (cDNA, protein, gDNA, or sequence context). If the variant was identified at GeneDx, eligible family members may get testing at no additional charge through the Variant Testing Program. A positive control specimen is not required but highly recommended (unless mitochondrial variant). Reports are generated for positive control only if requested (extra fee).
Limitations
Testing is limited to single, previously identified variants and does not constitute comprehensive gene or panel analysis. Some genes or variants may not be amenable to targeted or mosaic variant testing. Mosaic variant testing is not available for copy number variants. Without a positive control, a negative result may not conclusively rule out absence of the variant.
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided