Clinical and research tests for C2673885 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 64

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Joubert syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	37	37	C Sequence analysis of the entire coding region T Targeted variant analysis
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
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Joubert and Meckel-Gruber Syndromes Panel PreventionGenetics United States	43	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
NPHP3 Institute for Human Genetics University Medical Center Freiburg Germany	3	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
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
Joubert syndrome panel. 36-gene NGS panel. Genologica Medica Spain	61	33	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
Meckel syndrome panel. NGS panel of 13 genes. Genologica Medica Spain	29	12	C Sequence analysis of the entire coding region
NPHP3 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	3	1	D Deletion/duplication analysis
Meckel Syndrome (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	13	13	C Sequence analysis of the entire coding region
Nephronophthisis Asper Biogene Asper Biogene LLC Estonia	44	20	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
Expanded Polycystic Kidney Disease NGS Panel Fulgent Genetics United States	61	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 64

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.