Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Clefting (WES based NGS panel of 231 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 231 |
|
CGC Genetics Unilabs Portugal | 1 | 334 |
|
Koolen-De Vries syndrome (deletions/duplications in KANSL1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Koolen-De Vries syndrome (sequence analysis of KANSL1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Mendelics Brazil | 1 | 240 |
|
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain | 1 | 1372 |
|
Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel. Genologica Medica Spain | 63 | 48 |
|
Bioarray Spain | 1 | 172 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
|
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 |
|
Epilepsy Deletion/Duplication Panel GeneDx United States | 1 | 131 |
|
Two Known Familial Variants in a Nuclear Gene GeneDx United States | 1 | 1043 |
|
GeneDx United States | 1 | 877 |
|
One Known Familial Variant in a Nuclear Gene GeneDx United States | 1 | 1045 |
|
GeneDx United States | 2 | 2592 |
|
GeneDx United States | 1 | 1501 |
|
GeneDx United States | 1 | 127 |
|
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.