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GTR Home > Tests > PDE8B - NGS including CNV analysis

PDE8B - NGS including CNV analysis

  • GTR Test IDHelp: GTR000598724.1
  • Last updated: 2022-10-13
  • Annual Review past due read more
  • Test version history

Clinical testHelp for Pigmented nodular adrenocortical disease, primary, 3
Offered by Centogene AG - the Rare Disease Company

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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CENTOGENE has established stringent quality criteria and validation processes for variants detected by NGS. Variants with low sequenci ng quality and/or unclear zyg osity are confirmed by orthogonal methods. Consequently, a specificity of > 99.9% for all reported variants is warranted. Mitochondrial variants are reported for heteroplasmy levels of 15% or higher. The copy number variation (CNV) detection software has a sensitivity of more than 95% for all homozygous/hemizygous and mitochondrial deletions, as well as heterozygous deletions/duplications and homozygous/hemizygous duplications spanning at least three consecutive exons. For the u niparental disomy (UPD) screening, a specific algorithm is used to assess the well -known clinically relevant chromosomal regions (6q24, 7, 11p15.5, 14q32, 15q11q13, 20q13 and 2

Citations

Not provided

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
Yes
Method used for proficiency testingHelp
Formal PT program
PT ProviderHelp
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

FDA Regulatory Clearances of the Test

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Not provided

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