Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
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 |
|
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 |
|
CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 95 | 62 |
|
Diamond-Blackfan anemia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 20 | 20 |
|
Fulgent Genetics United States | 180 | 60 |
|
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States | 1048 | 472 |
|
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Reference Laboratory Genetics Spain | 63 | 58 |
|
Diamond-Blackfan Anemia, Panel Massive Sequencing (NGS) 9 Genes Reference Laboratory Genetics Spain | 9 | 9 |
|
Diamond-Blackfan Anemia, Sequencing RPL5,RPS10,RPL11,RPL35A,RPS26,RPS24,RPS17,RPS7 Genes Reference Laboratory Genetics Spain | 8 | 8 |
|
Diamond-Blackfan Anemia, Sequencing RPS10 Gene Reference Laboratory Genetics Spain | 1 | 1 |
|
Laboratorio de Genetica Clinica SL Spain | 11 | 11 |
|
Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands | 2 | 1 |
|
Bioarray Spain | 1 | 1 |
|
Bioarray Spain | 1 | 1 |
|
Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 86 | 87 |
|
RPS10 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
|
Fulgent Genetics 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.