List of diseases covered by
Congenital Muscular Dystrophy NGS panel

Gene Condition
B3GALNT2 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies, type A, 11
B4GAT1 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 13
CHKB Muscular dystrophy, congenital, megaconial type
COL12A1 Bethlem myopathy 2; Ullrich congenital muscular dystrophy 2
COL6A1 Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1
COL6A2 Bethlem myopathy 1; Myosclerosis, congenital;
Ullrich congenital muscular dystrophy 1
COL6A3 Bethlem myopathy 1; Dystonia 27;
Ullrich congenital muscular dystrophy 1
CRPPA Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7;
Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 7
DAG1 Muscular dystrophy-dystroglycanopathy, type A, 9;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
DMD Becker muscular dystrophy; Cardiomyopathy, dilated, 3B;
Duchenne muscular dystrophy
DPM1 Congenital disorder of glycosylation, type Ie
DPM2 Congenital disorder of glycosylation, type Iu
DPM3 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15;
Muscular dystrophy-dystroglycanopathy
(congenital with impaired intellectual development), type B, 15
EMD mery-Dreifuss muscular dystrophy 1, X-linked
FKRP Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 5;
Muscular dystrophy-dystroglycanopathy
(congenital with or without mental retardation), type B, 5;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
FKTN Muscular dystrophy-dystroglycanopathy, type A, 4;
Muscular dystrophy-dystroglycanopathy, type B, 4;
Muscular dystrophy-dystroglycanopathy
(limb-girdle), type C, 4; Cardiomyopathy, dilated, 1X
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
ITGA7 Muscular dystrophy, congenital, due to ITGA7 deficiency
LAMA2 Muscular dystrophy, congenital, merosin deficient or partially deficient;
Muscular dystrophy, limb-girdle, autosomal recessive 23
LARGE1 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 6;
Muscular dystrophy-dystroglycanopathy
(congenital with mental retardation), type B, 6
LMNA Muscular dystrophy, limb-girdle, type 1B;
Charcot-Marie-Tooth disease, type 2B1;
Cardiomyopathy, dilated, 1A;
Emery-Dreifuss muscular dystrophy 2, AD;
Emery-Dreifuss muscular dystrophy 3, AR;
Muscular dystrophy, congenital
POMGNT1 Muscular dystrophy-dystroglycanopathy, type A, 3;
Muscular dystrophy-dystroglycanopathy, type B, 3;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
POMGNT2 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies, type A, 8;
Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
POMK Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12;
Muscular dystrophy-dystroglycanopathy, type A, 12
POMT1 Muscular dystrophy-dystroglycanopathy, type A, 1;
Muscular dystrophy-dystroglycanopathy, type B, 1;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
POMT2 Muscular dystrophy-dystroglycanopathy, type A, 2;
Muscular dystrophy-dystroglycanopathy, type B, 2;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
RXYLT1 Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 10
SELENON Muscular dystrophy, rigid spine, 1;
Myopathy, congenital, with fiber-type disproportion
TCAP Muscular dystrophy, limb-girdle, type 2G;
Cardiomyopathy, hypertrophic, 25