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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
PCK2 - 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 | 406 | 414 |
|
Invitae Nuclear Mitochondrial Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 394 | 319 |
|
Labcorp Genetics (formerly Invitae) LabCorp United States | 173 | 119 |
|
Mitochondrial Full Genome Analysis Mayo Clinic Laboratories Mayo Clinic United States | 29 | 37 |
|
PreventionGenetics, part of Exact Sciences United States | 131 | 115 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
PCK2 - Mitochondrial PEPCK deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
|
Invitae Comprehensive Glycogen Storage Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 37 | 28 |
|
PreventionGenetics, part of Exact Sciences United States | 38 | 38 |
|
Mitochondrial Phosphoenolpyruvate Carboxykinase 2 Deficiency via the PCK2 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Glycogen Storage Disease and Disorders of Glucose Metabolism Panel PreventionGenetics, part of Exact Sciences United States | 33 | 33 |
|
Dhiti Omics Technologies Private Ltd India | 28 | 37 |
|
PCK2 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
|
Mitochondrial genome sequencing Molecular Vision Laboratory United States | 526 | 339 |
|
PCK2 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor 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.