Clinical and research tests for C1838280 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
COMP - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Multiple epiphyseal dysplasia (MED) NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	8	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Multiple epiphyseal dysplasia (MED) Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple epiphyseal dysplasia NGS Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple epiphyseal dysplasia Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple epiphyseal dysplasia Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis 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
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
Multiple epiphyseal dysplasia (MED) Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple epiphyseal dysplasia (MED) NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	8	C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	8	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
COMP-Related Disorders via the COMP Gene PreventionGenetics, part of Exact Sciences United States	2	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
Epiphyseal dysplasia, multiple: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	7	7	C Sequence analysis of the entire coding region
Pseudoachondroplasia (COMP Single Gene Test) Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes Reference Laboratory Genetics Spain	72	36	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.