Clinical and research tests for C1148551 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Telomere Disorders Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	30	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS Panel for Dyskeratosis congenita BloodGenetics Spain	12	16	C Sequence analysis of the entire coding region
Panel for Bone Marrow failure BloodGenetics Spain	57	69	C Sequence analysis of the entire coding region
DKC1 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoScreen Centogene US, LLC - The Rare Disease Company United States	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bone Marrow Failure / Anemia Panel Centogene US, LLC - The Rare Disease Company United States	212	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoSkin Panel Centogene US, LLC - The Rare Disease Company United States	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoIEM Panel Centogene US, LLC - The Rare Disease Company United States	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoImmuno Panel Centogene US, LLC - The Rare Disease Company United States	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoVision Panel Centogene US, LLC - The Rare Disease Company United States	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pulmonary Panel Centogene US, LLC - The Rare Disease Company United States	99	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoNeuro Panel Centogene US, LLC - The Rare Disease Company United States	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene US, LLC - The Rare Disease Company United States	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Intellectual Disability Panel Centogene US, LLC - The Rare Disease Company United States	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
DKC1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.