Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Craniodysmorphology Panel (FGFR1,2,3,TWIST) Center for Genetics at Saint Francis Saint Francis Hospital United States | 8 | 4 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States | 247 | 231 |
|
Rapid microarray (CGH and SNP) Allele Diagnostics United States | 247 | 231 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
Saethre-Chotzen Syndrome - Twist Gene Analysis Center for Genetics at Saint Francis Saint Francis Hospital United States | 1 | 1 |
|
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 693 | 388 |
|
Centogene AG - the Rare Disease Company Germany | 218 | 135 |
|
FGFR2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 11 | 1 |
|
Invitae Facial Dysostosis and Frontonasal Dysplasia Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 44 | 28 |
|
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 |
|
Congenital Diaphragmatic Hernia Panel PreventionGenetics, part of Exact Sciences United States | 116 | 65 |
|
Saethre-Chotzen Syndrome: TWIST1 Deletion/Duplication MLPA Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 1 | 1 |
|
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 |
|
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.