Clinical and research tests for C1834821 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 14 of 14

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States	266	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Metaphyseal dysplasia without hypotrichosis Sequencing test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Metaphyseal dysplasia without hypotrichosis 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
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 & 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 extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	26	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia extended NGS panel HNL Genomics Connective Tissue Gene Tests United States	26	19	C Sequence analysis of the entire coding region T Targeted variant analysis
RMRP Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	3	1	T Targeted variant analysis
RMRP Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	3	1	T Targeted variant analysis
Cartilage-hair Hypoplasia (CHH) and Related Disorders via the RMRP 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
Cartilage-Hair Hypoplasia Dwarfism (RMRP) Targeted Testing DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	3	1	T Targeted variant analysis
RMRP Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	3	1	C Sequence analysis of the entire coding region T Targeted variant analysis

Results: 1 to 14 of 14

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.