Clinical and research tests for C4759767 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Axial spondylometaphyseal dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Axial spondylometaphyseal dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Axial spondylometaphyseal dysplasia Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COL2A1-Related Disorders via the COL2A1 Gene PreventionGenetics, part of Exact Sciences United States	15	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Stickler Syndrome Panel PreventionGenetics, part of Exact Sciences United States	30	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple Epiphyseal Dysplasia Panel PreventionGenetics, part of Exact Sciences United States	29	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neurodegenerative panel _v.2.0 CGC Genetics Unilabs Portugal	15	207	C Sequence analysis of the entire coding region
Stickler Syndrome Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	28	6	C Sequence analysis of the entire coding region
Connective Tissue Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	112	45	C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	356	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Syndromic Hearing Loss NGS Panel Fulgent Genetics United States	223	84	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hearing Loss NGS Panel Fulgent Genetics United States	332	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spondyloepiphyseal Dysplasia (COL2A1 Single Gene Test) Fulgent Genetics United States	14	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Czech Dysplasia (COL2A1 Single Gene Test) Fulgent Genetics United States	14	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cleft Palate/Lip NGS Panel Fulgent Genetics United States	127	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Kniest Dysplasia (COL2A1 Single Gene Test) Fulgent Genetics United States	14	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Legg-Calvé-Perthes Disease (COL2A1 Single Gene Test) Fulgent Genetics United States	14	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypochondrogenesis (COL2A1 Single Gene Test) Fulgent Genetics United States	14	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type (COL2A1 Single Gene Test) Fulgent Genetics United States	14	1	D Deletion/duplication analysis 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.