Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Biotinidase deficiency (deletion/duplication analysis of BTD gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Genetic Services Laboratory University of Chicago United States | 72 | 133 |
|
ERCC8 Gene Cockayne syndrome type A NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 1 | 211 |
|
Peripheral Neuropathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 186 |
|
Motor and Sensory Neuropathy Panel Mayo Clinic Laboratories Mayo Clinic United States | 2 | 87 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
ERCC8 - 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 | 417 | 413 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
|
PathGroup United States | 73 | 505 |
|
Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 638 | 419 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
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 |
|
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States | 886 | 547 |
|
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.