Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
COH1. Complete sequencing by NGS Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
|
Hyperkalemic Periodic Paralysis Type 1 Molecular Genetics Laboratory London Health Sciences Centre Canada | 3 | 1 |
|
Non-dystrophic myotonia (SCN4A gene) Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 1 |
|
Genetic Services Laboratory University of Chicago United States | 31 | 43 |
|
Congenital Myasthenic Syndrome Panel Genetic Services Laboratory University of Chicago United States | 12 | 23 |
|
SCN4A Gene Hyperkalemic periodic paralysis NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
SCN4A Gene Myasthenic syndrome due to mutation in SCN4A NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Rhabdo/Metabolic Myopathy Panel Mayo Clinic Laboratories Mayo Clinic United States | 2 | 83 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 1 | 216 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 2 | 65 |
|
Genetic Services Laboratory University of Chicago United States | 116 | 137 |
|
Congenital Myasthenia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 28 |
|
Muscle Channelopathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 4 | 5 |
|
Genetic Services Laboratory University of Chicago United States | 116 | 137 |
|
Medical Genetics Laboratory Eulji University College of Medicine South Korea | 1 | 1 |
|
Hyperkalemic Periodic Paralysis Medical Genetics Laboratory Eulji University College of Medicine South Korea | 1 | 1 |
|
Hypokalemic Periodic Paralysis Type 2 Medical Genetics Laboratory Eulji University College of Medicine South Korea | 1 | 1 |
|
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 693 | 388 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
SCN4A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 5 | 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.