Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
CACNA1S. Complete sequencing by NGS Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 182 | 117 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 35 | 23 |
|
RAB27A Gene Griscelli syndrome type 2 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Machaon Diagnostics United States | 7 | 41 |
|
Machaon Diagnostics United States | 7 | 32 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
RAB27A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 734 | 744 |
|
Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
Centogene AG - the Rare Disease Company Germany | 323 | 329 |
|
Centogene AG - the Rare Disease Company Germany | 417 | 413 |
|
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
|
Centogene AG - the Rare Disease Company Germany | 157 | 151 |
|
Invitae Oculocutaneous Albinism Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 28 | 22 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 754 | 562 |
|
Invitae Hypopigmentation Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 83 | 46 |
|
Invitae Phagocytic Disorders Including Neutropenia Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 92 | 68 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 249 | 155 |
|
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.