Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
CGC Genetics Unilabs Portugal | 1 | 1307 |
|
Clefting (WES based NGS panel of 231 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 231 |
|
Charcot-Marie-Tooth disease (WES based NGS panel of 43 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal | 1 | 43 |
|
Charcot-Marie-Tooth disease type 2B2 (CMT2B2, sequence analysis of MED25 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Charcot-Marie-Tooth disease type 2B2 (CMT2B2, deletion/duplication analysis of MED25 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Mendelics Brazil | 1 | 104 |
|
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 1202 |
|
CHARCOT-MARIE-TOOTH EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 151 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 696 |
|
Basel-Vanagait-Smirin-Yosef syndrome: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
|
Codex Genetics Limited Hong Kong | 1 | 490 |
|
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 |
|
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 |
|
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.