Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 30 | 18 |
|
NGS Panel for Dyskeratosis congenita BloodGenetics Spain | 12 | 16 |
|
NGS Panel for Bone Marrow failure BloodGenetics Spain | 57 | 69 |
|
WRAP53 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 323 | 329 |
|
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
|
Centogene AG - the Rare Disease Company Germany | 157 | 151 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
|
Invitae Telomere Biology Disorders Panel Invitae United States | 22 | 13 |
|
Invitae Hypopigmentation Panel Invitae United States | 83 | 46 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 250 | 155 |
|
Dyskeratosis congenita NGS panel HNL Genomics Connective Tissue Gene Tests United States | 1 | 12 |
|
Dyskeratosis congenita Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 1 | 12 |
|
Dyskeratosis congenita Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 1 | 12 |
|
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 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 24 | 15 |
|
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.