Clinical and research tests for 603194 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 41

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	525	338	C Sequence analysis of the entire coding region
Joubert Syndrome via the TMEM216 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
Ciliopathy Panel PreventionGenetics, part of Exact Sciences United States	135	133	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Joubert and Meckel-Gruber Syndromes Panel PreventionGenetics, part of Exact Sciences United States	43	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
TMEM216 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Cholestasis panel. NGS panel of 46 genes. Genologica Medica Spain	88	46	C Sequence analysis of the entire coding region
Hereditary ataxias. NGS panel of 139 genes. Genologica Medica Spain	220	139	C Sequence analysis of the entire coding region
Ataxia panel. NGS panel of 157 genes. Genologica Medica Spain	247	156	C Sequence analysis of the entire coding region
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain	420	257	C Sequence analysis of the entire coding region
Ciliopathy panel. NGS panel of 99 genes. Genologica Medica Spain	152	97	C Sequence analysis of the entire coding region
TMEM216 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	D Deletion/duplication analysis
Cholestasis NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	104	73	C Sequence analysis of the entire coding region
Brain Malformations Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	111	56	C Sequence analysis of the entire coding region
Meckel syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	15	13	C Sequence analysis of the entire coding region
MECKEL SYNDROME (MECKEL-GRUBER) Laboratorio de Genetica Clinica SL Spain	6	6	C Sequence analysis of the entire coding region
Meckel syndrome type 2 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Meckel Syndrome Panel CeGaT GmbH Germany	11	12	C Sequence analysis of the entire coding region
Ataxia and differential diagnoses Panel CeGaT GmbH Germany	173	204	C Sequence analysis of the entire coding region
TMEM216 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Ciliopathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	144	102	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.

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Results: 21 to 40 of 41

Results: 21 to 40 of 41