Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Diamond-Blackfan anemia NGS panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 18 |
|
PreventionGenetics United States | 10 | 11 |
|
Diamond-Blackfan Anemia and Bone Marrow Failure via the RPL11 Gene PreventionGenetics United States | 1 | 1 |
|
Invitae Bone Marrow Failure Syndromes Panel Invitae United States | 138 | 85 |
|
Invitae Diamond-Blackfan Anemia Panel Invitae United States | 16 | 13 |
|
Genetic Services Laboratory University of Chicago United States | 15 | 21 |
|
IGENOMIX Spain | 8 | 1 |
|
IGENOMIX Spain | 8 | 1 |
|
IGENOMIX Spain | 8 | 1 |
|
IGENOMIX Spain | 8 | 1 |
|
IGENOMIX Spain | 8 | 1 |
|
IGENOMIX Spain | 8 | 1 |
|
IGENOMIX Spain | 8 | 1 |
|
IGENOMIX Spain | 8 | 1 |
|
IGENOMIX Spain | 8 | 1 |
|
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain | 194 | 122 |
|
Blackfan-Diamond anemia panel. NGS panel of 11 genes. Genologica Medica Spain | 14 | 11 |
|
Unilabs Genetics CGC Genetics Portugal | 177 | 109 |
|
Blackfan-Diamond anemia (WES based NGS panel of 21 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal | 20 | 21 |
|
Limb reduction defects (WES based NGS panel of 141 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal | 295 | 141 |
|
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.