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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
HSPG2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
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 | 325 | 316 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States | 297 | 180 |
|
Invitae Skeletal Disorders Panel Invitae 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 |
|
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 52 | 53 |
|
Skeletal dysplasia and skeletal ciliopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States | 52 | 53 |
|
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 52 | 53 |
|
Dyssegmental dysplasia, Silverman-Handmaker type NGS test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Dyssegmental dysplasia, Silverman-Handmaker type Comprehensive test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Dyssegmental dysplasia, Silverman-Handmaker type Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Skeletal dysplasia extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 26 | 19 |
|
Skeletal dysplasia core & extended NGS panel HNL Genomics Connective Tissue Gene Tests United States | 46 | 29 |
|
Spondylo-Epi-Metaphyseal dysplasias NGS panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
|
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