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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
PYCR1 - 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 | 777 | 770 |
|
Centogene AG - the Rare Disease Company Germany | 406 | 414 |
|
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 | 157 | 151 |
|
Invitae Connective Tissue Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 195 | 92 |
|
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 624 | 349 |
|
Cutis laxa Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 7 | 9 |
|
Cutis laxa Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 7 | 9 |
|
HNL Genomics Connective Tissue Gene Tests United States | 7 | 9 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 110 | 50 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 166 | 101 |
|
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 124 | 69 |
|
Cutis laxa Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 7 | 9 |
|
HNL Genomics Connective Tissue Gene Tests United States | 7 | 9 |
|
Cutis laxa Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 7 | 9 |
|
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.