Test Code: FAMVA1
Familial Variant Testing
Rare-Diseases
Targeted genetic testing focuses on analyzing a specific genetic variant already identified in a patient or family member, and is most often used for cascade testing of at‑risk relatives, carrier testing to assess reproductive risk, confirmatory testing to validate a known finding, and mosaic variant analysis when partial variant presence is suspected.
Sample Type
Trophectoderm Biopsy
Turnaround Time
10 - 14 days days
Courier Requirements
Ship overnight at room temperature to receive next day. Maintain specimen at room temperature.
Pricing
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Methodology
Capture-based target enrichment and Next Generation Sequencing.
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