We have launched an updated Asper Neurogenetics menu. Genetic testing for Congenital Myasthenic Syndrome is now available, as well as updated version of Epilepsy panel. Learn more at www.asperbio.com/asper-neurogenetics
Congenital Myasthenic Syndrome NGS panel
Published 13/12/2018Congenital Myasthenic Syndrome NGS panel
| Genes (full coding region): |
AGRN, ALG2, ALG14, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMB2, LRP4, MUSK, PLEC, PREPL, RAPSN, SCN4A, SLC5A7, SNAP25, SYT2 |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
List of diseases covered by Congenital Myasthenic Syndrome NGS panel
Published 13/12/2018List of diseases covered by
Congenital Myasthenic Syndrome NGS panel
| Gene | Condition |
| AGRN | Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects |
| ALG2 | Myasthenic syndrome, congenital, 14, with tubular aggregates; Congenital disorder of glycosylation, type Ii |
| ALG14 | Myasthenic syndrome, congenital, 15, without tubular aggregates |
| CHAT | Myasthenic syndrome, congenital, 6, presynaptic |
| CHRNA1 | Multiple pterygium syndrome, lethal type; Myasthenic syndrome, congenital, 1A, slow-channel; Myasthenic syndrome, congenital, 1B, fast-channel |
| CHRNB1 | Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency; Myasthenic syndrome, congenital, 2A, slow-channel |
| CHRND | Myasthenic syndrome, congenital, 3A, slow-channel; Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency; Multiple pterygium syndrome, lethal type; Myasthenic syndrome, congenital, 3B, fast-channel |
| CHRNE | Myasthenic syndrome, congenital, 4A, slow-channel; Myasthenic syndrome, congenital, 4B, fast-channel; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency |
| COLQ | Myasthenic syndrome, congenital, 5 |
| DOK7 | Myasthenic syndrome, congenital, 10; Fetal akinesia deformation sequence |
| DPAGT1 | Myasthenic syndrome, congenital, 13, with tubular aggregates; Congenital disorder of glycosylation, type Ij |
| GFPT1 | Myasthenia, congenital, 12, with tubular aggregates |
| GMPPB | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 |
| LAMB2 | Nephrotic syndrome, type 5, with or without ocular abnormalities; Pierson syndrome |
| LRP4 | Myasthenic syndrome, congenital, 17; Cenani-Lenz syndactyly syndrome; Sclerosteosis 2 |
| MUSK | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Fetal akinesia deformation sequence |
| PLEC | Epidermolysis bullosa simplex with nail dystrophy; Epidermolysis bullosa simplex with muscular dystrophy; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Muscular dystrophy, limb-girdle, autosomal recessive 17 |
| PREPL | Myasthenic syndrome, congenital, 22 |
| RAPSN | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency; Fetal akinesia deformation sequence |
| SCN4A | Myasthenic syndrome, congenital, 16; Hyperkalemic periodic paralysis, type 2; Hypokalemic periodic paralysis, type 2; Myotonia congenita, atypical, acetazolamide-responsive; Paramyotonia congenita |
| SLC5A7 | Myasthenic syndrome, congenital, 20, presynaptic; Neuronopathy, distal hereditary motor, type VIIA |
| SNAP25 | Myasthenic syndrome, congenital, 18 |
| SYT2 | Myasthenic syndrome, congenital, 7, presynaptic |