Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
TALDO1 Gene Transaldolase deficiency NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
TALDO1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Invitae Connective Tissue Disorders Panel Invitae United States | 195 | 92 |
|
Invitae United States | 210 | 134 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 8 | 112 |
|
PreventionGenetics, part of Exact Sciences United States | 130 | 69 |
|
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States | 291 | 148 |
|
PreventionGenetics, part of Exact Sciences United States | 131 | 115 |
|
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 |
|
CGC Genetics Unilabs Portugal | 1 | 837 |
|
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 10 | 930 |
|
Syndromes with short stature (WES based NGS panel of 104 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 104 |
|
CGC Genetics Unilabs Portugal | 1 | 174 |
|
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal | 1 | 606 |
|
Fetal hydrops (WES based NGS panel for 66 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 66 |
|
Transaldolase deficiency (sequence analysis of TALDO1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Mendelics Brazil | 1 | 183 |
|
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.