Clinical and research tests for 300514 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 58

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel PreventionGenetics, part of Exact Sciences United States	82	78	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Fanconi Anemia Panel Genetic Services Laboratory University of Chicago United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Fanconi Anemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	26	15	D Deletion/duplication analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Fanconi Anemia via the FANCB Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Fanconi Anemia Panel PreventionGenetics, part of Exact Sciences United States	20	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Chromosomes, DEB Assay for Fanconi Anemia Quest Diagnostics Nichols Institute Chantilly United States	15	15	B Chromosome breakage studies
Chromosome DEB Assay for Fanconi anemia, Prenatal Quest Diagnostics Nichols Institute Chantilly United States	15	15	B Chromosome breakage studies
Limb malformation panel. NGS panel of 45 genes. Genologica Medica Spain	77	45	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
X-linked intellectual disability panel. 99-gene NGS panel. Genologica Medica Spain	143	99	C Sequence analysis of the entire coding region
Fanconi anemia panel Genologica Medica Spain	35	22	C Sequence analysis of the entire coding region
Gastrointestinal atresia panel. NGS panel of 13 genes. Genologica Medica Spain	19	13	C Sequence analysis of the entire coding region
Renal malformation panel. NGS panel of 22 genes. Genologica Medica Spain	44	22	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
Intellectual Disability X-linked Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	136	90	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
Intellectual Disability & Autism Spectrum Disorders Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	210	139	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 58

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.

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Results: 21 to 40 of 58

Results: 21 to 40 of 58