Clinical and research tests for 616615 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CSGALNACT1 - 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
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Desbuquois dysplasia and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Desbuquois dysplasia core Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	2	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Desbuquois dysplasia core NGS panel HNL Genomics Connective Tissue Gene Tests United States	2	4	C Sequence analysis of the entire coding region T Targeted variant analysis
Desbuquois dysplasia core Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	2	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Desbuquois dysplasia and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Desbuquois dysplasia and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	11	C Sequence analysis of the entire coding region T Targeted variant analysis
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Desbuquois dysplasia core NGS panel HNL Genomics Connective Tissue Gene Tests United States	2	4	C Sequence analysis of the entire coding region T Targeted variant analysis
Desbuquois dysplasia core Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	2	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Desbuquois dysplasia core Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	2	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Desbuquois dysplasia and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Desbuquois dysplasia and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	11	C Sequence analysis of the entire coding region T Targeted variant analysis
Desbuquois dysplasia and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Congenital Disorders of Glycosylation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	203	152	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Disorders Panel Baylor Genetics United States	1	354	C Sequence analysis of the entire coding region
Hereditary ataxias panel_v.2.0 CGC Genetics Unilabs Portugal	1	427	C Sequence analysis of the entire coding region

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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.