Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Brown-Vialetto-Van Laere syndrome 1 (deletion/duplication analysis on SLC52A3 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
CBLIF Gene Intrinsic factor deficiency NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
CBLIF - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
|
Methylmalonic Aciduria Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 25 |
|
Methylmalonic Aciduria-Propionic Aciduria Combined Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 2 | 28 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
GIF - Intrinsic factor deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 625 |
|
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel PreventionGenetics, part of Exact Sciences United States | 34 | 39 |
|
CGC Genetics Unilabs Portugal | 1 | 837 |
|
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 10 | 930 |
|
Idiopathic renal failure on young (NGS panel of 173 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 173 |
|
Haematological diseases panel _v.2.0 CGC Genetics Unilabs Portugal | 1 | 344 |
|
CGC Genetics Unilabs Portugal | 1 | 174 |
|
Intrinsic factor deficiency (sequence analysis of GIF gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Mendelics Brazil | 1 | 183 |
|
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain | 1 | 1372 |
|
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.