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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
PAX3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
|
PAX7 - 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 | 325 | 316 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
FOXO1 (FKHR) Rearrangement Detection by FISH Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States | 1 | 3 |
|
Invitae Hypopigmentation Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 83 | 46 |
|
Invitae Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 405 | 219 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Rhabdomyosarcoma 2, alveolar, 268220, Autosomal recessive (Rhabdomyosarcoma) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Solid and brain tumor fusion panel Laboratory for Molecular Pediatric Pathology Boston Children's Hospital United States | 14 | 26 |
|
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States | 362 | 227 |
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Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States | 376 | 266 |
|
PreventionGenetics, part of Exact Sciences United States | 58 | 42 |
|
Craniosynostosis panel. NGS panel of 37 genes. Genologica Medica Spain | 113 | 37 |
|
Duzen Laboratories Duzen BBAGUAS Turkey | 1 | 1 |
|
Non-Ewing Sarcoma NGS Fusion Profile NeoGenomics Laboratories NeoGenomics Laboratories, Inc. United States | 4 | 24 |
|
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.