Clinical and research tests for C4012146 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CANT1 - 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 Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States	253	189	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
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	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 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
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly Panel PreventionGenetics, part of Exact Sciences United States	231	139	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Desbuquois dysplasia 1, 251450, Autosomal recessive; DBQD1 (Desbuquois syndrome) (CANT1 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
Desbuquois dysplasia 1, 251450, Autosomal recessive; DBQD1 (Desbuquois syndrome) (CANT1 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
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Desbuquois dysplasia 1 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
Desbuquois dysplasia 1 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
Desbuquois dysplasia 1 NGS Test HNL Genomics Connective Tissue Gene Tests United States	1	1	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

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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.