Clinical and research tests for C3810200 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Short-rib thoracic dysplasia 11 with or without polydactyly, 615633, Autosomal recessive; SRTD11 (Jeune syndrome) (WDR34 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
Short-rib thoracic dysplasia 11 with or without polydactyly, 615633, Autosomal recessive; SRTD11 (Jeune syndrome) (WDR34 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
SkeletalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	64	23	C Sequence analysis of the entire coding region
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	52	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal dysplasia and skeletal ciliopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	52	53	C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	52	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia ciliopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia ciliopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	20	19	C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia ciliopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Short Rib Skeletal Dysplasia Panel PreventionGenetics, part of Exact Sciences United States	24	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel. 16-gene NGS panel. Genologica Medica Spain	24	16	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	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
Short-rib thoracic dysplasia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	19	20	C Sequence analysis of the entire coding region
Invitae Perinatal Lethal Skeletal Dysplasia and Skeletal Ciliopathies Panel Invitae United States	22	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Ciliopathies Asper Biogene Asper Biogene LLC Estonia	28	23	C Sequence analysis of the entire coding region
Invitae Ciliopathies Panel Invitae United States	144	102	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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