U.S. flag

An official website of the United States government

GTR Home > Tests > DCTN1 - NGS including CNV analysis

Performance Characteristics

Availability

Help

  • Entire test performed in-house

Analytical Validity

Help

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

Help

Not provided

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.