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Other countries
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Centogene AG - the Rare Disease Company Germany | 1 | 37 |
|
Centogene AG - the Rare Disease Company Germany | 1 | 2 |
|
CentoGenome (Whole Genome Sequencing) Centogene AG - the Rare Disease Company Germany | 1 | 2 |
|
CentoXome (Whole Exome Sequencing) Centogene AG - the Rare Disease Company Germany | 1 | 2 |
|
PlateletGenex Functional Defect Panel (31 genes) (2 Day STAT TAT) Machaon Diagnostics United States | 26 | 31 |
|
UNC13D inversion PCR (2 Day STAT TAT) Machaon Diagnostics United States | 1 | 1 |
|
CFHR5 Deletion/Duplication by RT-PCR (2 Day STAT TAT) Machaon Diagnostics United States | 1 | 1 |
|
Hypophosphatasia (HPP) and Osteogenesis Imperfecta (OI) Genetic Panel (2 Day STAT TAT) Machaon Diagnostics United States | 18 | 15 |
|
Machaon Diagnostics United States | 1 | 1 |
|
CFH region Deletion/Duplication by MLPA (2 Day STAT TAT) Machaon Diagnostics United States | 1 | 5 |
|
Factor IX (F9) Gene Sequencing with duplication/deletion (NGS, MLPA) (2 Day STAT TAT) Machaon Diagnostics United States | 1 | 1 |
|
VWD-Complete Genetic Panel (2 Day STAT TAT) Machaon Diagnostics United States | 4 | 1 |
|
PlateletGenex Thrombocytopenia Panel (26 genes) (2 Day STAT TAT) Machaon Diagnostics United States | 22 | 26 |
|
Polycystic Kidney Disease (PKD) Genetic Panel Machaon Diagnostics United States | 2 | 2 |
|
Versiti Diagnostic Laboratories Versiti, Inc United States | 1 | 1 |
|
Versiti Diagnostic Laboratories Versiti, Inc United States | 1 | 1 |
|
Versiti Diagnostic Laboratories Versiti, Inc United States | 1 | 1 |
|
Friedreich Ataxia (FRDA) via the FXN GAA Repeat Expansion PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Low Levels of Free Carnitine (C0) via the SLC22A5 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Elevated Levels of C6, C8 and C10 Acylcarnitine via the ACADM Gene PreventionGenetics, part of Exact Sciences United States | 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.