Clinical and research tests for C1865872 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Nephronophthisis and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	29	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nephronophthisis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	29	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nephronophthisis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	29	29	C Sequence analysis of the entire coding region T Targeted variant analysis
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
Polycystic kidney disease and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	29	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polycystic kidney disease and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	29	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polycystic kidney disease and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	28	21	C Sequence analysis of the entire coding region T Targeted variant analysis
Nephronophthisis via the INVS / NPHP2 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
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
Nephronophthisis and Senior-Loken Syndrome Panel PreventionGenetics, part of Exact Sciences United States	17	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
INVS Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Inherited Renal Disorders Panel Dhiti Omics Technologies Private Ltd India	72	57	C Sequence analysis of the entire coding region
Nephronoptysis panel. NGS panel of 20 genes. Genologica Medica Spain	42	20	C Sequence analysis of the entire coding region
Senior-Loken syndrome panel. 8-gene NGS panel. Genologica Medica Spain	18	8	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
Primary ciliary dyskinesia panel. 36-gene NGS panel. Genologica Medica Spain	46	35	C Sequence analysis of the entire coding region
Heterotaxy and situs inversus panel. 32-gene NGS panel. Genologica Medica Spain	34	31	C Sequence analysis of the entire coding region
INVS Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis

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Results: 21 to 40 of 80

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.