List of non-coding variants covered by Congenital Muscular Dystrophy NGS panel

Published 02/10/2020

List of non-coding variants covered by
Congenital Muscular Dystrophy NGS panel

Gene Non-coding variant
DMD c.9974+175T>A
DMD c.9225-285A>G
DMD c.9225-647A>G
DMD c.8217+18052A>G
DMD c.6614+3310G>T
DMD c.4675-11A>G
DMD c.3432+2036A>G
DMD c.961-5831C>T
DMD c.832-15A>G
DMD c.650-39498A>G
DMD c.265-463A>G
DMD c.93+5590T>A
DMD c.31+36947G>A
FKRP c.-272G>A
FKTN c.648-1243G>T
LAMA2 c.5071+3104del
LMNA c.513+45T>G
LMNA c.1609-12T>G
POMGNT1 1284+2_1284+19del18
POMT1 c.-30-2A>G
SELENON c.*1107T>C

List of diseases covered by Congenital Muscular Dystrophy NGS panel

Published 02/10/2020

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

Congenital Muscular Dystrophy NGS panel

Published 02/10/2020

Congenital Muscular Dystrophy
NGS panel

Genes
(full coding
region):		 B3GALNT2, B4GAT1, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DPM1, DPM2, DPM3, EMD, FKRP, FKTN, GMPPB, ITGA7, LAMA2, LARGE1, LMNA, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, SELENON, TCAP

List of diseases covered by the panel
Non-coding variants: List of non-coding variants covered by the panel
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
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