Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
SPG11 Gene SPG11 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
UPB1 - 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 | 829 | 848 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
|
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 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 625 |
|
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark | 1 | 600 |
|
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States | 202 | 212 |
|
MNG Laboratories (Medical Neurogenetics, LLC.) United States | 414 | 800 |
|
CGC Genetics Unilabs Portugal | 1 | 837 |
|
CGC Genetics Unilabs Portugal | 1 | 1293 |
|
Beta-ureidopropionase deficiency (deletion/duplication analysis on UPB1) CGC Genetics Unilabs Portugal | 1 | 1 |
|
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 1202 |
|
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain | 1 | 1372 |
|
Beta-ureidopropionase deficiency: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 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.