Clinical and research tests for C4539937 - Genetic Testing Registry (GTR)

Results: 1 to 16 of 16

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
ARMC9 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly Panel PreventionGenetics, part of Exact Sciences United States	231	139	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Joubert syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	37	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Joubert syndrome and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	37	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
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
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
Joubert syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	38	34	C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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: 1 to 16 of 16

Results: 1 to 16 of 16