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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States | 247 | 231 |
|
Rapid microarray (CGH and SNP) Allele Diagnostics United States | 247 | 231 |
|
FGD1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 777 | 770 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Invitae Neurodevelopmental Disorders Panel Invitae United States | 404 | 241 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Aarskog-Scott syndrome, 305400, X-linked recessive; AAS (Aarskog-Scott syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
PreventionGenetics United States | 177 | 163 |
|
X-Linked Intellectual Disability Panel PreventionGenetics United States | 191 | 141 |
|
Aarskog-Scott Syndrome via the FGD1 Gene PreventionGenetics United States | 1 | 1 |
|
Aarskog-Scott Syndrome (FGD1 Single Gene Test) Fulgent Genetics United States | 1 | 1 |
|
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Athena Diagnostics Inc United States | 57 | 56 |
|
Epilepsy Advanced Sequencing and CNV Evaluation Athena Diagnostics Inc United States | 233 | 234 |
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AARSKOG SYNDROME (FACIODIGITOGENITAL SYNDROME OR FACIOGENITAL DYSPLASIA) Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
|
Aarskog Syndrome, Deletions-Duplications (MLPA) FGD1 Gene Reference Laboratory Genetics Spain | 1 | 1 |
|
Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States | 5 | 34 |
|
Epilepsy Comprehensive NGS Panel Fulgent Genetics United States | 729 | 398 |
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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.