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

Published 02/10/2020

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

Gene Non-coding variant
CAPN3 c.-188G>C
DYSF c.3443-33A>G
DYSF c.4886+1249G>T
DYSF c.5668-824C>T
DYSF c.*107T>A
FKTN c.648-1243G>T
LMNA c.513+45T>G
LMNA c.1609-12T>G
POMGNT1 1284+2_1284+19del18
POMT1 c.-30-2A>G
SGCG c.-1+1G>T

List of diseases covered by Limb-Girdle Muscular Dystrophy NGS panel

Published 29/05/2018

List of diseases covered by
Limb-Girdle Muscular Dystrophy NGS panel

Gene Condition
ANO5 Muscular dystrophy, limb-girdle, type 2L;
Miyoshi muscular dystrophy 3; Gnathodiaphyseal dysplasia
BVES Muscular dystrophy, limb-girdle, autosomal recessive 25
CAPN3 Muscular dystrophy, limb-girdle, type 2A
CAV3 Muscular dystrophy, limb-girdle, type IC;
Cardiomyopathy, familial hypertrophic;
Creatine phosphokinase, elevated serum;
Long QT syndrome 9; Myopathy, distal, Tateyama type;
Rippling muscle disease
CRPPA Muscular dystrophy-dystroglycanopathy, type A, 7;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
DAG1 Muscular dystrophy-dystroglycanopathy, type A, 9;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
DES Muscular dystrophy, limb-girdle, type 2R;
Cardiomyopathy, dilated, 1I; Myopathy, myofibrillar, 1;
Scapuloperoneal syndrome, neurogenic, Kaeser type
DMD Becker muscular dystrophy;
Cardiomyopathy, dilated, 3B; Duchenne muscular dystrophy
DNAJB6 Muscular dystrophy, limb-girdle, type 1E
DOK7 Fetal akinesia deformation sequence 3;
Myasthenic syndrome, congenital, 10
DYSF Muscular dystrophy, limb-girdle, type 2B;
Miyoshi muscular dystrophy 1; Myopathy, distal, with anterior tibial onset
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
GAA Glycogen storage disease II
GMPPB Muscular dystrophy-dystroglycanopathy, type A, 14;
Muscular dystrophy-dystroglycanopathy, type B, 14;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
HNRNPDL Muscular dystrophy, limb-girdle, type 1G
LAMA2 Muscular dystrophy, congenital,
merosin deficient or partially deficient;
Muscular dystrophy, limb-girdle, autosomal recessive 23
LIMS2 Muscular dystrophy, autosomal recessive,
with cardiomyopathy and triangular tongue
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
MYOT Muscular dystrophy, limb-girdle, type 1A; Myopathy, myofibrillar, 3;
Myopathy, spheroid body
PLEC Muscular dystrophy, limb-girdle, type 2Q;
Epidermolysis bullosa simplex with nail dystrophy;
Epidermolysis bullosa simplex with muscular dystrophy;
Epidermolysis bullosa simplex with pyloric atresia;
Epidermolysis bullosa simplex, Ogna type
PNPLA2 Neutral lipid storage disease with myopathy
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
SELENON Muscular dystrophy, rigid spine, 1;
Myopathy, congenital, with fiber-type disproportion
SGCA Muscular dystrophy, limb-girdle, type 2D
SGCB Muscular dystrophy, limb-girdle, type 2E
SGCD Muscular dystrophy, limb-girdle, type 2F;
Cardiomyopathy, dilated, 1L
SGCG Muscular dystrophy, limb-girdle, type 2C
SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic;
Bosma arhinia microphthalmia syndrome
SYNE1 Arthrogryposis multiplex congenita 3, myogenic type;
Emery-Dreifuss muscular dystrophy 4, autosomal dominant;
Spinocerebellar ataxia, autosomal recessive 8
TCAP Muscular dystrophy, limb-girdle, type 2G;
Cardiomyopathy, hypertrophic, 25
TNPO3 Muscular dystrophy, limb-girdle, type 1F
TOR1AIP1 Muscular dystrophy, autosomal recessive,
with rigid spine and distal joint contractures
TRAPPC11 Muscular dystrophy, limb-girdle, type 2S
TRIM32 Muscular dystrophy, limb-girdle, type 2H;
Bardet-Biedl syndrome 11
TTN Muscular dystrophy, limb-girdle, type 2J;
Myopathy, proximal, with early respiratory muscle involvement;
Salih myopathy; Tibial muscular dystrophy, tardive;
Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9

Limb-Girdle Muscular Dystrophy NGS panel

Published 01/03/2018

Limb-Girdle Muscular Dystrophy
NGS panel

Genes
(full coding
region):		 ANO5, BVES, CAPN3, CAV3, CRPPA, DAG1, DES, DMD, DNAJB6, DOK7, DYSF, FKRP, FKTN, GAA, GMPPB, HNRNPDL, LAMA2, LIMS2, LMNA, MYOT, PLEC, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SELENON, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN

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

Deletion/duplication analysis

Genes: ANO5, CAPN3, DYSF, FKRP, LCAV3, LMNA, MYOT, SGCA, SGCB, SGCD, SGCG, ZMPSTE24
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 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