Clinical and research tests for C0265286 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
DYM - 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
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Dyggve-Melchior-Clausen disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Dyggve-Melchior-Clausen disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dyggve-Melchior-Clausen disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dyggve-Melchior-Clausen disease, 223800, Autosomal recessive; DMC (Dyggve-Melchior-Clausen disease) (DYM 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
Dyggve-Melchior-Clausen disease, 223800, Autosomal recessive; DMC (Dyggve-Melchior-Clausen disease) (DYM 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
Dyggve-Melchior-Clausen disease NGS Test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Dyggve-Melchior-Clausen disease 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
Dyggve-Melchior-Clausen disease 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
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
Dyggve-Melchior-Clausen disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Dyggve-Melchior-Clausen disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dyggve-Melchior-Clausen disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes. Genologica Medica Spain	175	102	C Sequence analysis of the entire coding region
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.