Clinical and research tests for C0265289 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 41

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
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
COL10A1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	T Targeted variant analysis
COL10A1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
COL10A1 Sequence Analysis Baylor Genetics United States	1	1	C Sequence analysis of the entire coding region
Metaphyseal Chondrodysplasia, Schmid Type (MCDS) via the COL10A1 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
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain	258	111	C Sequence analysis of the entire coding region
Metaphyseal dysplasia panel. NGS panel of 11 genes. Genologica Medica Spain	42	11	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	C Sequence analysis of the entire coding region
Comprehensive Short Stature Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	82	60	C Sequence analysis of the entire coding region
Metaphyseal Dysplasia NGS Panel Fulgent Genetics United States	37	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel Blueprint Genetics Finland	2	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Metaphyseal dysplasia Panel CeGaT GmbH Germany	7	8	C Sequence analysis of the entire coding region
Metaphyseal chondrodysplasia, Schmid type Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Single gene testing COL10A1 CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
Metaphyseal Chondrodysplasia, Schmid Type, COL10A1 sequencing Molecular Diagnostics Laboratory Seoul National University Hospital South Korea	1	1	E Sequence analysis of select exons
COL10A1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Dysplasias NGS Panel Fulgent Genetics United States	543	178	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 41

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.