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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
COL9A2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 417 | 413 |
|
Connective Tissue and Related Disorder Panel Centogene AG - the Rare Disease Company Germany | 75 | 76 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Centogene AG - the Rare Disease Company Germany | 203 | 194 |
|
Invitae Connective Tissue Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 195 | 92 |
|
PreventionGenetics, part of Exact Sciences United States | 285 | 137 |
|
Invitae Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 405 | 219 |
|
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 624 | 349 |
|
Invitae Stickler Syndrome Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 32 | 9 |
|
Multiple epiphyseal dysplasia (MED) NGS panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 7 |
|
Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 7 |
|
Multiple epiphyseal dysplasia (MED) Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 7 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 33 | 10 |
|
Invitae Inherited Retinal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 486 | 293 |
|
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 166 | 101 |
|
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States | 362 | 227 |
|
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 |
|
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.