Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
ZMYND11 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
PlateletGenex Thrombocytopenia Panel (26 genes) (2 Day STAT TAT) Machaon Diagnostics United States | 22 | 26 |
|
THPO - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 110 | 112 |
|
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
|
Invitae Familial Essential Thrombocythemia Panel Invitae United States | 9 | 3 |
|
Invitae Limb and Digital Malformations Panel Invitae United States | 356 | 177 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 250 | 155 |
|
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States | 267 | 186 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Inherited Thrombocytopenia Panel Versiti Diagnostic Laboratories Versiti, Inc United States | 40 | 42 |
|
Hereditary Thrombocythemia via the THPO Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
PreventionGenetics, part of Exact Sciences United States | 78 | 79 |
|
Hematology Comprehensive Panel CGC Genetics Unilabs Portugal | 1 | 291 |
|
CGC Genetics Unilabs Portugal | 1 | 121 |
|
Bone Marrow Failure Syndrome Panel CGC Genetics Unilabs Portugal | 1 | 175 |
|
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal | 1 | 606 |
|
Thrombocythemia 1 (sequence analysis of THPO gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Familial thrombocytosis (deletion/duplication analysis of THPO gene) CGC Genetics Unilabs Portugal | 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.