Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Oral-facial-digital syndrome (sequence analysis of C2CD3 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Congenital Myasthenic Syndrome Panel Genetic Services Laboratory University of Chicago United States | 12 | 23 |
|
DOK7 Gene Myasthenic syndrome, congenital, type 10 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
DOK7 Gene Fetal akinesia deformation sequence NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 1 | 216 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 2 | 65 |
|
Genetic Services Laboratory University of Chicago United States | 116 | 137 |
|
Congenital Myasthenia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 28 |
|
Genetic Services Laboratory University of Chicago United States | 116 | 137 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
|
DOK7 - 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 | 325 | 316 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Congenital Myasthenic Syndrome Panel PreventionGenetics, part of Exact Sciences United States | 59 | 32 |
|
Congenital contracture syndrome extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 10 | 31 |
|
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 22 |
|
Congenital contracture syndrome extended NGS panel HNL Genomics Connective Tissue Gene Tests United States | 10 | 31 |
|
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.