Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Emberger syndrome, 614038, Autosomal dominant (Deafness-lymphedema-leukemia syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Congenital Neutropenia GenePanel Mayo Clinic Laboratories Mayo Clinic United States | 46 | 30 |
|
EBV/Lymphoproliferation GenePanel Mayo Clinic Laboratories Mayo Clinic United States | 35 | 25 |
|
GATA2 Gene, Full Gene Analysis Mayo Clinic Laboratories Mayo Clinic United States | 4 | 1 |
|
Comprehensive HemeComplete Profile + Heme Fusion + CALR PCR + FLT3 PCR PathGroup United States | 16 | 160 |
|
Centogene AG - the Rare Disease Company Germany | 155 | 107 |
|
Centogene AG - the Rare Disease Company Germany | 218 | 135 |
|
Centogene AG - the Rare Disease Company Germany | 74 | 34 |
|
GATA2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
|
Invitae Multi-Cancer + RNA Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 142 | 63 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 754 | 562 |
|
Invitae Surfactant Metabolism Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 40 | 19 |
|
Myeloid NextGen Sequencing Assay with Calreticulin Exon 9 Mutation PathGroup United States | 16 | 65 |
|
Myeloid NextGen Sequencing Assay PathGroup United States | 16 | 65 |
|
Myeloid NextGen Sequencing Assay with FLT3 ITD and TKD Analysis PathGroup United States | 16 | 65 |
|
Comprehensive Myeloid Profile + CALR PCR + FLT3 PCR PathGroup United States | 16 | 65 |
|
Invitae Phagocytic Disorders Including Neutropenia Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 92 | 68 |
|
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.