Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Niemann-Pick disease types A and B (sequence analysis of SMPD1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
ACOX1 Gene Acyl-CoA peroxisomal oxidase deficiency NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Genomic Unity® Hearing Loss Disorders Analysis Variantyx, Inc. United States | 1 | 318 |
|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
|
ACOX1 - 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 | 734 | 744 |
|
Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
Centogene AG - the Rare Disease Company Germany | 406 | 414 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
|
Invitae United States | 210 | 134 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 8 | 112 |
|
Peroxisomal Disorder Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 4 | 28 |
|
Invitae Comprehensive Deafness Panel Invitae United States | 405 | 219 |
|
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States | 638 | 419 |
|
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States | 242 | 146 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
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.