Clinical and research tests for C0265251 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cleft Lip/Cleft Palate Panel PreventionGenetics, part of Exact Sciences United States	177	161	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypospadias Panel PreventionGenetics, part of Exact Sciences United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Otopalatodigital syndrome, type I / II Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Otopalatodigital syndrome, type I / II Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Otopalatodigital syndrome, type I / II NGS Test HNL Genomics Connective Tissue Gene Tests United States	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis
TAADNext® Ambry Genetics United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FBN1 gene sequence and deletion/duplication reflex to TAADNext® Ambry Genetics United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cardio® Ambry Genetics United States	236	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Limb Malformation Panel PreventionGenetics, part of Exact Sciences United States	103	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Ehlers-Danlos Syndrome Panel Labcorp Genetics (formerly Invitae) LabCorp United States	38	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Thrombocytopenia Panel - Expanded PreventionGenetics, part of Exact Sciences United States	32	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Epilepsy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States	191	141	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Aortopathy Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States	60	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniofacial Panel Genetic Services Laboratory University of Chicago United States	31	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Otopalatodigital Spectrum Disorders, Periventricular Nodular Heterotopia and Cardiac Valvular Dystrophy via the FLNA Gene PreventionGenetics, part of Exact Sciences United States	9	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
FLNA MLPA Institute for Human Genetics University Medical Center Freiburg Germany	9	1	D Deletion/duplication analysis
Periventricular heterotopia panel Genologica Medica Spain	52	20	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.