Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Prenatal Known Familial Mutation GeneDx United States | 1 | 1716 |
|
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States | 1 | 1718 |
|
GeneDx United States | 1 | 1040 |
|
Two Known Familial Variants in a Nuclear Gene GeneDx United States | 1 | 1043 |
|
One Known Familial Variant in a Nuclear Gene GeneDx United States | 1 | 1045 |
|
GeneDx United States | 2 | 2592 |
|
GeneDx United States | 1 | 1501 |
|
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States | 1 | 1722 |
|
Sotos syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 3 | 3 |
|
Macrocephaly/Overgrowth Syndrome NGS Panel Fulgent Genetics United States | 100 | 38 |
|
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Blueprint Genetics Finland | 2 | 308 |
|
Comprehensive Skeletal Dysplasias and Disorders Panel Blueprint Genetics Finland | 1 | 246 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
|
Invitae Overgrowth and Macrocephaly Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 43 | 20 |
|
Macrocephaly / Overgrowth Syndrome Panel Blueprint Genetics Finland | 1 | 43 |
|
MGZ Medical Genetics Center Germany | 14 | 342 |
|
Mental Retardation and Dysmorphology - panels MGZ Medical Genetics Center Germany | 15 | 343 |
|
Overgrowth/Macrocephaly NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 16 | 16 |
|
Hildebrandt Laboratory Boston Children's Hospital United States | 2 | 204 |
|
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.