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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Hereditary ataxias. NGS panel of 139 genes. Genologica Medica Spain | 220 | 139 |
|
Ataxia panel. NGS panel of 157 genes. Genologica Medica Spain | 247 | 156 |
|
Glutathione Synthetase Deficiency (GSS Single Gene Test) Fulgent Genetics United States | 2 | 1 |
|
Fulgent Genetics United States | 505 | 132 |
|
Fulgent Genetics United States | 533 | 149 |
|
GLUTATHIONE SYNTHETASE DEFIECIENCY WITH 5-OXOPROLINURIA Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
|
Hemolytic Anemia Panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 33 | 34 |
|
CeGaT GmbH Germany | 2 | 1 |
|
Hereditary Hemolytic Anemia Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 21 | 28 |
|
GSS Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 2 | 1 |
|
Institute of Human Genetics Medical University Innsbruck Austria | 2 | 1 |
|
Fulgent Genetics United States | 2 | 1 |
|
Fulgent Genetics United States | 5128 | 4672 |
|
Fulgent Genetics United States | 1103 | 676 |
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 2 | 1 |
|
Intellectual Disability NGS Panel Fulgent Genetics United States | 1058 | 554 |
|
Red Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 13 | 14 |
|
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.