Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
PGM1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
|
Congenital Hyperinsulinism Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States | 19 | 11 |
|
Carbohydrate Metabolism Deficiency (NGS Panel and Copy Number Analysis + mtDNA) MNG Laboratories (Medical Neurogenetics, LLC.) United States | 10 | 52 |
|
PGM1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States | 1 | 1 |
|
Congenital Disorders of Glycosylation Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 51 | 41 |
|
Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 11 | 13 |
|
Congenital disorders of glycosylation, type I: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 26 | 26 |
|
Comprehensive Metabolism NGS Panel Fulgent Genetics United States | 602 | 356 |
|
Fulgent Genetics United States | 71 | 53 |
|
Fulgent Genetics United States | 36 | 30 |
|
CONGENITAL DISORDERS OF GLYCOSYLATION Laboratorio de Genetica Clinica SL Spain | 5 | 5 |
|
Rhabdomyolysis & Metabolic Myopathies NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 46 | 47 |
|
CeGaT GmbH Germany | 26 | 44 |
|
Fulgent Genetics United States | 1 | 1 |
|
Fulgent Genetics United States | 5130 | 4674 |
|
Fulgent Genetics United States | 1103 | 676 |
|
Myopathy-Rhabdomyolysis NGS Panel Fulgent Genetics United States | 37 | 29 |
|
Fulgent Genetics United States | 41 | 21 |
|
Baylor Genetics United States | 842 | 637 |
|
Metaboseq Gene Sequencing Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 57 | 55 |
|
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.