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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Centogene AG - the Rare Disease Company Germany | 1 | 37 |
|
Centogene AG - the Rare Disease Company Germany | 1 | 2 |
|
CentoGenome (Whole Genome Sequencing) Centogene AG - the Rare Disease Company Germany | 1 | 2 |
|
CentoXome (Whole Exome Sequencing) Centogene AG - the Rare Disease Company Germany | 1 | 2 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 23 | 15 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 1 | 1 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 1 | 1 |
|
Friedreich Ataxia (FRDA) via the FXN GAA Repeat Expansion PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Low Levels of Free Carnitine (C0) via the SLC22A5 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Elevated Levels of C6, C8 and C10 Acylcarnitine via the ACADM Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Elevated Levels of C14 and C14:1 Acylcarnitine via the ACADVL Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Elevated Levels of C0/(C16+C18) Acylcarnitine via the CPT1A Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Elevated C5-DC Acylcarnitine via the GCDH Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 107 | 96 |
|
Alzheimer's Disease, Familial, Plus APOE Panel PreventionGenetics, part of Exact Sciences United States | 5 | 4 |
|
Labcorp Genetics (formerly Invitae) LabCorp United States | 1 | 1 |
|
Labcorp Genetics (formerly Invitae) LabCorp United States | 24 | 8 |
|
Labcorp Genetics (formerly Invitae) LabCorp United States | 2 | 1 |
|
Invitae Frontotemporal Dementia with C9orf72 Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 30 | 14 |
|
Labcorp Genetics (formerly Invitae) LabCorp 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.