Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Porencephaly 2 (deletion/duplication analysis of COL4A2 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
MANBA Gene Mannosidosis-beta NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States | 287 | 218 |
|
Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada | 77 | 50 |
|
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 |
|
Centogene AG - the Rare Disease Company Germany | 195 | 205 |
|
Centogene AG - the Rare Disease Company Germany | 12 | 22 |
|
Centogene AG - the Rare Disease Company Germany | 10 | 13 |
|
MANBA - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 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 | 669 | 688 |
|
Centogene AG - the Rare Disease Company Germany | 203 | 194 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
|
Lysosomal Storage Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 56 |
|
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 624 | 349 |
|
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States | 242 | 146 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
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.