Clinical and research tests for C1857069 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
WNT10A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoSkin Panel Centogene AG - the Rare Disease Company Germany	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Schopf-Schulz-Passarge syndrome, 224750, Autosomal recessive; SSPS (Schöpf-Schulz-Passarge syndrome) (WNT10A 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
Schopf-Schulz-Passarge syndrome, 224750, Autosomal recessive; SSPS (Schöpf-Schulz-Passarge syndrome) (WNT10A 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
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Schopf-Schulz-Passarge syndrome Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Schopf-Schulz-Passarge syndrome Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Schopf-Schulz-Passarge syndrome Sequencing test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Oligodontia - Selective tooth agenesis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	10	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Oligodontia - Selective tooth agenesis NGS panel HNL Genomics Connective Tissue Gene Tests United States	10	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Oligodontia - Selective tooth agenesis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	10	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Ectodermal Dysplasia and Related Disorders Panel Invitae United States	148	73	D Deletion/duplication analysis
Ectodermal Dysplasia via the WNT10A Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal Dysplasia Panel PreventionGenetics, part of Exact Sciences United States	11	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal dysplasia panel. 23-gene NGS panel. Genologica Medica Spain	60	23	C Sequence analysis of the entire coding region
Palmoplantar keratoderma panel. 25-gene NGS panel. Genologica Medica Spain	62	25	C Sequence analysis of the entire coding region
Horizon 274 Male Natera, Inc. United States	244	254	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Horizon 274 Plus TSE Natera, Inc. United States	265	275	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 274 Natera, Inc. United States	265	274	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 274 Natera, Inc. United States	265	274	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis

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