Periodic Hypokalemic Paralysis Type2 (TG) SCN4A
| TEST CODE | MG05730 |
| TEST NAME | Periodic Hypokalemic Paralysis Type2 (TG) SCN4A |
| RELATED GENE | SCN4A |
| SYNONYMOUS | SCN4A |
| OMIM | 603967 |
| HEREDITY | Autosomal Dominant, Autosomal Recessive |
| CLINICAL AREA | Periodic Hypokalemic Paralysis Type 2 is an Autosomal Dominant inherited disease. Mutations in the SCN4A gene have been associated with Periodic Hypokalemic Paralysis Type2, Periodic Hyperkalemic Paralysis Type2, Congenital Myasthenic Syndrome 16, Acetazolamide-sensitive Atypical Myotonia Congenita. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 ml |
| TAT | 40 DAYS |
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