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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Diseases of sexual development (WES based NGS panel of 46 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 46 |
|
Ichthyosis and Ectodermal Dysplasia Panel Mendelics Brazil | 2 | 58 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 85 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 643 |
|
ECTODERMAL DYSPLASIA EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 110 |
|
Craniosynostosis panel. NGS panel of 37 genes. Genologica Medica Spain | 113 | 37 |
|
Barber-Say syndrome: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
|
Ablepharon-macrostomia syndrome: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Prenatal Known Familial Mutation GeneDx United States | 1 | 1716 |
|
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States | 1 | 1718 |
|
GeneDx United States | 2 | 2592 |
|
Focal facial dermal dysplasia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 2 | 2 |
|
Blueprint Genetics Finland | 1 | 37 |
|
Hildebrandt Laboratory Boston Children's Hospital United States | 2 | 204 |
|
Focal facial dermal dysplasia 3, Setleis type Bioarray Spain | 1 | 1 |
|
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel CeGaT GmbH Germany | 29 | 55 |
|
Fulgent Genetics United States | 1 | 1 |
|
Fulgent Genetics United States | 5128 | 4672 |
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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.