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Results: 1 to 20 of 20
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Floating harbor syndrome testing (SRCAP) Genetic Services Laboratory University of Chicago United States | 1 | 1 |
|
Invitae Expanded Renal Disease Panel Invitae United States | 693 | 388 |
|
SRCAP - 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 | 777 | 770 |
|
Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel Invitae United States | 48 | 38 |
|
Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
|
Polydactyly and Syndactyly Panel PreventionGenetics United States | 320 | 231 |
|
PreventionGenetics United States | 220 | 128 |
|
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Panel PreventionGenetics United States | 43 | 42 |
|
Invitae Cornelia de Lange Syndrome and Related Disorders Panel Invitae United States | 44 | 31 |
|
Floating-Harbor Syndrome via the SRCAP Gene PreventionGenetics United States | 1 | 1 |
|
Facial Dysostosis Related Disorders Panel PreventionGenetics United States | 33 | 19 |
|
Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Panel PreventionGenetics United States | 3 | 3 |
|
Rubinstein-Taybi and Related Syndromes Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 5 | 7 |
|
Expanded Polycystic Kidney Disease NGS Panel Fulgent Genetics United States | 61 | 34 |
|
Facial Dysostosis and Related Disorders NGS Panel Fulgent Genetics United States | 85 | 29 |
|
Floating-Harbor Syndrome (SRCAP Single Gene Test) Fulgent Genetics United States | 1 | 1 |
|
Fulgent Genetics United States | 1 | 1 |
|
Fulgent Genetics United States | 5129 | 4672 |
|
Results: 1 to 20 of 20
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.