Clinical and research tests for 604505 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Achondrogenesis, type IA 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
Achondrogenesis, type IA NGS test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Achondrogenesis, type IA 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
Skeletal dysplasia core Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	21	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal dysplasia core & extended NGS panel HNL Genomics Connective Tissue Gene Tests United States	46	29	C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia core NGS panel HNL Genomics Connective Tissue Gene Tests United States	21	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia core Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	21	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia core & extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	46	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia core & extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	46	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Achondrogenesis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Achondrogenesis NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Achondrogenesis Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	3	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
Achondrogenesis Type 1A via the TRIP11 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal Disorders Panel Baylor Genetics United States	1	354	C Sequence analysis of the entire coding region
TRIP11 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Bone diseases panel_v.2.0 CGC Genetics Unilabs Portugal	1	662	C Sequence analysis of the entire coding region
Achondrogenesis type IA (sequence analysis of TRIP11 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Skeletal Diseases Panel Mendelics Brazil	1	333	C Sequence analysis of the entire coding region
OSTEOGENESIS IMPERFECTA EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	44	E Sequence analysis of select exons

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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.