Clinical and research tests for C3151445 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 54

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TeloZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	23	15	C Sequence analysis of the entire coding region
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	124	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
DCNext™ Ambry Genetics United States	12	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Interstitial Lung Disease Panel PreventionGenetics, part of Exact Sciences United States	26	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Invitae United States	177	130	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Invitae Bone Marrow Failure Syndromes Panel Invitae United States	137	85	D Deletion/duplication analysis
Dyskeratosis Congenita (DC) and Revesz Syndrome via the TINF2 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dyskeratosis Congenita (DC) and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	15	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Interstitial lung disease panel. 25-gene NGS panel. Genologica Medica Spain	40	25	C Sequence analysis of the entire coding region
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain	194	122	C Sequence analysis of the entire coding region
Dermatological. Full panel Genologica Medica Spain	122	68	C Sequence analysis of the entire coding region
Complete panel of pulmonology. NGS panel of 66 genes. Genologica Medica Spain	115	66	C Sequence analysis of the entire coding region
Congenital dyskeratosis panel. NGS panel of 13 genes. Genologica Medica Spain	19	13	C Sequence analysis of the entire coding region
Hereditary leukemia panel. NGS panel of 39 genes. Genologica Medica Spain	89	39	C Sequence analysis of the entire coding region
Aplastic Anemia Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	64	39	C Sequence analysis of the entire coding region
Bone Marrow Failure Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	95	62	C Sequence analysis of the entire coding region
Dyskeratosis congenita: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	14	10	C Sequence analysis of the entire coding region
Dyskeratosis Congenita NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	18	14	C Sequence analysis of the entire coding region
Bone Marrow Failure NGS Panel Fulgent Genetics United States	180	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 54

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.