Clinical and research tests for C0265965 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
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
Dyskeratosis congenita NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dyskeratosis congenita Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dyskeratosis congenita Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dyskeratosis congenita Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dyskeratosis congenita Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dyskeratosis congenita NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Myeloid Malignancy Panel Genetic Services Laboratory University of Chicago United States	37	85	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia Exome Genetic Services Laboratory University of Chicago United States	289	481	C Sequence analysis of the entire coding region
Telomere Biology Disorder/Dyskeratosis Congenita Panel Genetic Services Laboratory University of Chicago United States	5	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Inherited Bone Marrow Failure Panel Genetic Services Laboratory University of Chicago United States	29	59	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	330	746	T Targeted variant analysis
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	746	T Targeted variant analysis
GeneSeq PLUS Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GeneSeq PLUS, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	597	C Sequence analysis of the entire coding region
Partner Reflex to GeneSeq Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
Inheritest 500 PLUS Panel Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Telomere Disorder Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	5	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	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.