Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
CTH - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Rhizomelic Chondrodysplasia Punctata Panel Genetic Services Laboratory University of Chicago United States | 3 | 9 |
|
PEX5 Gene Rhizomelic chondrodysplasia punctata type 5 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Genomic Unity® Hearing Loss Disorders Analysis Variantyx, Inc. United States | 1 | 318 |
|
AudioloGene Hearing Loss Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 200 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
Centogene AG - the Rare Disease Company Germany | 195 | 205 |
|
PEX5 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 734 | 744 |
|
Centogene AG - the Rare Disease Company Germany | 777 | 770 |
|
Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
Centogene AG - the Rare Disease Company Germany | 498 | 498 |
|
Centogene AG - the Rare Disease Company Germany | 499 | 499 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
|
Labcorp Genetics (formerly Invitae) LabCorp United States | 210 | 134 |
|
Invitae Comprehensive Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 351 | 249 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 7 | 112 |
|
Peroxisomal Disorder Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 4 | 28 |
|
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.