Clinical and research tests for C1849011 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	C Sequence analysis of the entire coding region
DDR2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Spondylometaepiphyseal dysplasia, short limb-hand type, 271665, Autosomal recessive (Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome) (DDR2 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
Spondylometaepiphyseal dysplasia, short limb-hand type, 271665, Autosomal recessive (Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome) (DDR2 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
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	52	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal dysplasia and skeletal ciliopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	52	53	C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	52	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	26	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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 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
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
Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Hand Type (SMED-SL) via the DDR2 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
Spondylometaphyseal / spondyloepimetaphyseal dysplasia panel. 28-gene NGS panel. Genologica Medica Spain	69	28	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.