Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
CERS1 Gene Progressive myoclonus epilepsy type 8 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
CAT Gene Acatalasemia NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
CAT - 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 | 406 | 414 |
|
Peroxisomal Disorder Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 4 | 28 |
|
Acatalasemia, 614097 (Acatalasemia) (CAT gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Acatalasemia, 614097 (Acatalasemia) (CAT gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 625 |
|
PreventionGenetics, part of Exact Sciences United States | 36 | 27 |
|
Baylor Genetics United States | 842 | 637 |
|
CGC Genetics Unilabs Portugal | 1 | 837 |
|
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 10 | 930 |
|
Lysosomal and peroxisomal diseases (WES based NGS panel of 122 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal | 1 | 122 |
|
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain | 1 | 1372 |
|
Acatalasemia: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
|
Peroxisomal Disorders Gene Panel Duzen Laboratories Duzen BBAGUAS Turkey | 39 | 30 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
GeneDx United States | 2 | 2592 |
|
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.