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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
GDF5 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 8 | 1 |
|
BMP2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
BMPR1B - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
VACTERL Association and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States | 123 | 84 |
|
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 624 | 349 |
|
Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 356 | 177 |
|
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States | 320 | 231 |
|
PreventionGenetics, part of Exact Sciences United States | 231 | 139 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
PreventionGenetics, part of Exact Sciences United States | 220 | 128 |
|
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States | 886 | 547 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 171 | 137 |
|
PreventionGenetics, part of Exact Sciences United States | 177 | 161 |
|
Congenital Limb Malformation Panel PreventionGenetics, part of Exact Sciences United States | 103 | 99 |
|
GDF5-related Disorders via the GDF5 Gene PreventionGenetics, part of Exact Sciences United States | 6 | 1 |
|
Brachydactyly type A2 (sequence analysis of BMPR1B gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Brachydactyly type A2 (sequence analysis of BMP2 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
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.