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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 |
|
Centogene AG - the Rare Disease Company Germany | 498 | 498 |
|
Centogene AG - the Rare Disease Company Germany | 499 | 499 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 624 | 349 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Pseudoachondroplasia Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Pseudoachondroplasia Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Spondylo-Epi-Metaphyseal dysplasias NGS panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
|
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
|
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
|
Multiple Epiphyseal Dysplasia Panel PreventionGenetics, part of Exact Sciences United States | 29 | 10 |
|
COMP-Related Disorders via the COMP Gene PreventionGenetics, part of Exact Sciences United States | 2 | 1 |
|
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain | 258 | 111 |
|
Prenatal Skeletal Dysplasia Panel GeneDx United States | 17 | 48 |
|
Pseudoachondroplasia (COMP Single Gene Test) Fulgent Genetics United States | 2 | 1 |
|
Pseudoachondroplasia: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
|
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