Clinical and research tests for C0008445 - 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
Chondrodysplasia punctata and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Chondrodysplasia punctata and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Chondrodysplasia punctata and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Chondrodysplasia punctata and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Chondrodysplasia punctata and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Chondrodysplasia punctata and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PGmax™ - Skeletal Disorders and Joint Problems Panel PreventionGenetics, part of Exact Sciences United States	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Prenatal Skeletal Dysplasia Panel GeneDx United States	17	48	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Dysplasia GeneDx United States	10	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Chondrodysplasia Punctata Panel Blueprint Genetics Finland	1	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nevus Panel with interpretation Clinical Genomics Laboratory Washington University in St. Louis United States	26	28	C Sequence analysis of the entire coding region
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	48	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	48	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Somatic Overgrowth Panel with interpretation Clinical Genomics Laboratory Washington University in St. Louis United States	86	49	C Sequence analysis of the entire coding region

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.