Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Diamond-Blackfan anemia 6, 612561, Autosomal dominant; DBA6 (Blackfan-Diamond anemia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Ambry Genetics United States | 10 | 11 |
|
Diamond-Blackfan Anemia and Bone Marrow Failure via the RPL5 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Diamond-Blackfan anemia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 18 |
|
Diamond-Blackfan anemia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 18 |
|
Diamond-Blackfan anemia NGS panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 18 |
|
PreventionGenetics, part of Exact Sciences United States | 18 | 23 |
|
Hereditary Myeloid Malignancy Panel Genetic Services Laboratory University of Chicago United States | 37 | 85 |
|
Invitae Bone Marrow Failure Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 137 | 85 |
|
Invitae Diamond-Blackfan Anemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 16 | 13 |
|
Genetic Services Laboratory University of Chicago United States | 15 | 21 |
|
Inherited Bone Marrow Failure Panel Genetic Services Laboratory University of Chicago United States | 29 | 59 |
|
Limb reduction defects (WES based NGS panel of 141 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 141 |
|
Clefting (WES based NGS panel of 231 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 231 |
|
Oncological diseases panel _v.2.0 CGC Genetics Unilabs Portugal | 1 | 205 |
|
Hematological Malignancies Hereditary Panel CGC Genetics Unilabs Portugal | 1 | 147 |
|
Haematological diseases panel _v.2.0 CGC Genetics Unilabs Portugal | 1 | 344 |
|
Bone Marrow Failure Syndrome Panel CGC Genetics Unilabs Portugal | 1 | 175 |
|
CGC Genetics Unilabs Portugal | 1 | 174 |
|
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.