Clinical and research tests for C1858054 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 45

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bardet-Biedl Syndrome (BBS) Panel PreventionGenetics, part of Exact Sciences United States	26	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MKKS Institute for Human Genetics University Medical Center Freiburg Germany	2	1	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
Congenital liver fibrosis panel. NGS panel of 52 genes. Genologica Medica Spain	89	50	C Sequence analysis of the entire coding region
Bardet-Biedl syndrome panel. 23-gene NGS panel. Genologica Medica Spain	44	23	C Sequence analysis of the entire coding region
Monogenic obesity panel. 36-gene NGS panel. Genologica Medica Spain	55	36	C Sequence analysis of the entire coding region
Ciliopathies Asper Biogene Asper Biogene LLC Estonia	166	120	C Sequence analysis of the entire coding region
Bardet-Biedl Syndrome: gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	23	23	C Sequence analysis of the entire coding region
Bardet-Biedl Syndrome NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	24	26	C Sequence analysis of the entire coding region
Eye diseases comprehensive panel Asper Biogene Asper Biogene LLC Estonia	367	291	C Sequence analysis of the entire coding region
Abnormal/Ambiguous Genitalia Panel Genetic Services Laboratory University of Chicago United States	81	92	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bardet-Biedl-Syndrom 6 MVZ Dr. Eberhard & Partner Dortmund Germany	1	1	C Sequence analysis of the entire coding region
Bardet-Biedl syndrome panel Molecular Vision Laboratory United States	38	23	C Sequence analysis of the entire coding region
Retinal Dystrophy Panel Molecular Vision Laboratory United States	372	283	C Sequence analysis of the entire coding region
Bardet-Biedl Syndrome Panel CeGaT GmbH Germany	17	24	C Sequence analysis of the entire coding region
Bardet Biedl Syndrome Panel CeGaT GmbH Germany	17	24	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 45

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 45

Results: 21 to 40 of 45