Clinical and research tests for 100800 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 107

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Achondroplasia / Hypochondroplasia HNL Genomics Connective Tissue Gene Tests United States	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Achondroplasia / Hypochondroplasia Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Achondroplasia / Hypochondroplasia Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States	2	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
Spondylo-Epi-Metaphyseal dysplasias NGS panel HNL Genomics Connective Tissue Gene Tests United States	79	54	C Sequence analysis of the entire coding region T Targeted variant analysis
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	79	54	D Deletion/duplication analysis 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
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	79	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Facial Dysostosis Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	33	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	19	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Achondroplasia Mutation Panel Baylor Genetics United States	12	1	S Mutation scanning of the entire coding region
Achondroplasia Mutation Analysis Quest Diagnostics Nichols Institute San Juan Capistrano United States	1	1	T Targeted variant analysis
FGFR3-Related Disorders via the FGFR3 Gene PreventionGenetics, part of Exact Sciences United States	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Achondroplasia via the FGFR3 Gene, Exon 10 PreventionGenetics, part of Exact Sciences United States	1	1	E Sequence analysis of select exons T Targeted variant analysis
Periventricular heterotopia panel Genologica Medica Spain	52	20	C Sequence analysis of the entire coding region
Achondroplasia Genologica Medica Spain	14	1	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.