Clinical and research tests for BPNT2 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
IMPAD1 Gene Chondrodysplasia with joint dislocations, GPAPP type NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Desbuquois dysplasia and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Desbuquois dysplasia core Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	2	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Desbuquois dysplasia core NGS panel HNL Genomics Connective Tissue Gene Tests United States	2	4	C Sequence analysis of the entire coding region T Targeted variant analysis
Desbuquois dysplasia core Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	2	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Desbuquois dysplasia and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Desbuquois dysplasia and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	11	C Sequence analysis of the entire coding region T Targeted variant analysis
Chondrodysplasia with joint dislocations, GPAPP type, 614078, Autosomal recessive (Chondrodysplasia with joint dislocations, gPAPP type) (IMPAD1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Chondrodysplasia with joint dislocations, GPAPP type, 614078, Autosomal recessive (Chondrodysplasia with joint dislocations, gPAPP type) (IMPAD1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
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
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
Desbuquois dysplasia core NGS panel HNL Genomics Connective Tissue Gene Tests United States	2	4	C Sequence analysis of the entire coding region T Targeted variant analysis
Desbuquois dysplasia core Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	2	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Desbuquois dysplasia core Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	2	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Desbuquois dysplasia and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Desbuquois dysplasia and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	11	C Sequence analysis of the entire coding region T Targeted variant analysis
Desbuquois dysplasia and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	11	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.