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GTR Home > Tests > TP63-Related Disorders via the TP63 Gene

TP63-Related Disorders via the TP63 Gene

  • GTR Test IDHelp: GTR000507799.12
  • Last updated: 2023-06-19
  • Test version history

Clinical testHelp for ADULT syndrome
Offered by PreventionGenetics

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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Copy Number Variant Analysis: The PGxome test detects most larger deletions and duplications including intragenic CNVs and large cytogenetic events; however aberrations in a small percentage of regions may not be accurately detected due to sequence paralogy (e.g., pseudogenes, segmental duplications), sequence properties, deletion/duplication size (e.g., 1-3 exons vs. 4 or more exons), and inadequate coverage. In general, sensitivity for single, double, or triple exon CNVs is ~80% and for CNVs of four exon size or larger is close to 100%, but may vary from gene-to-gene based on exon size, depth of coverage, and characteristics of the region.

Citations

Not provided

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
Yes
Method used for proficiency testingHelp
Intra-Laboratory

FDA Regulatory Clearances of the Test

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FDA Category Designation
FDA exercises enforcement discretion

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