Congenital Myasthenic Syndrome NGS panel

Congenital Myasthenic Syndrome NGS panel

Genes: AGRN, ALG2, ALG14, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMB2, LRP4, MUSK, PLEC, PREPL, RAPSN, SCN4A, SLC5A7, SNAP25, SYT2

List of diseases covered by the panel


Price / TAT: NGS: 1030 EUR / 6-9 weeks

NGS with CNV: 1400 EUR / 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
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

List of diseases covered by Congenital Myasthenic Syndrome NGS panel

List 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