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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Genital Abnormalities / Sex Development Disorders Panel Genologica Medica Spain | 95 | 49 |
|
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
|
Custom XomeDx Slice – Differences of Sex Development (Proband Only) GeneDx United States | 21 | 112 |
|
Cytochrome P450 Oxidoreductase Deficiency (POR Single Gene Test) Fulgent Genetics United States | 2 | 1 |
|
Fulgent Genetics United States | 339 | 61 |
|
Congenital Adrenal Hyperplasia NGS Panel Fulgent Genetics United States | 32 | 8 |
|
Nonsyndromic disorders of sexual development: gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 17 | 12 |
|
Congenital Adrenal Hyperplasia , Panel Massive Sequencing (NGS) 6 Genes Reference Laboratory Genetics Spain | 6 | 6 |
|
Syndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes Reference Laboratory Genetics Spain | 13 | 9 |
|
Invitae Antley-Bixler syndrome Test Invitae United States | 4 | 1 |
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 47 | 44 |
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 26 | 22 |
|
PreSeek Non-invasive Prenatal Gene Sequencing Screen Baylor Genetics United States | 49 | 30 |
|
Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States | 16 | 23 |
|
Asper Biogene Asper Biogene LLC Estonia | 38 | 24 |
|
Abnormal/Ambiguous Genitalia Panel Genetic Services Laboratory University of Chicago United States | 81 | 92 |
|
Institute of Human Genetics Medical University Innsbruck Austria | 2 | 1 |
|
Fulgent Genetics United States | 2 | 1 |
|
Fulgent Genetics United States | 5129 | 4672 |
|
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.