Clinical and research tests for C4084843 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 16 of 16

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	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	39	31	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	39	31	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	39	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Joubert syndrome 26, 616784, Autosomal recessive; JBTS26 (Joubert syndrome) (KIAA0556 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Joubert syndrome 26, 616784, Autosomal recessive; JBTS26 (Joubert syndrome) (KIAA0556 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
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 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
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
KATNIP gene sequencing Duzen Laboratories Duzen BBAGUAS Turkey	1	1	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

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