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Diagnosis of myopathies (NGS screening panel, 65 genes)

  • Institut für Humangenetik
  • Universität Würzburg - Biozentrum
  • Am Hubland
  • 97074 WÜRZBURG
  • GERMANY
  • Director of laboratory : Dr Simone ROST
  • More information
  • Phone : 49 (0)931 318 4070
  • Additional Phone : -
  • Fax : 49 (0)931 318 4434
  • Website
  • Contact
Last update: January 2020

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (105)
Alpha-B crystallin-related late-onset myopathy
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
Amish nemaline myopathy
Anoctamin-5-related limb-girdle muscular dystrophy R12
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant centronuclear myopathy
Autosomal dominant limb-girdle muscular dystrophy type 1A
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive centronuclear myopathy
Becker muscular dystrophy
Benign Samaritan congenital myopathy
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
Bethlem myopathy
Calpain-3-related limb-girdle muscular dystrophy R1
Cap myopathy
Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, neonatal form
Carnitine palmitoyl transferase II deficiency, severe infantile form
Central core disease
Childhood-onset nemaline myopathy
Classic multiminicore myopathy
Congenital fiber-type disproportion myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with intellectual disability
Congenital muscular dystrophy without intellectual disability
Congenital muscular dystrophy, Fukuyama type
Congenital muscular dystrophy, Ullrich type
Congenital myasthenic syndromes with glycosylation defect
Congenital myopathy with excess of thin filaments
Congenital myopathy with myasthenic-like onset
Congenital myopathy, Paradas type
DNAJB6-related limb-girdle muscular dystrophy D1
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
Desmin-related myopathy with Mallory body-like inclusions
Desminopathy
Distal anoctaminopathy
Distal myopathy with anterior tibial onset
Distal myopathy with posterior leg and anterior hand involvement
Distal myopathy, Welander type
Distal myotilinopathy
Duchenne muscular dystrophy
Dysferlin-related limb-girdle muscular dystrophy R2
Early-onset myopathy with fatal cardiomyopathy
FKRP-related limb-girdle muscular dystrophy R9
Facioscapulohumeral dystrophy
Fatal infantile hypertonic myofibrillar myopathy
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Fukutin-related limb-girdle muscular dystrophy R13
GMPPB-related limb-girdle muscular dystrophy R19
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
Genetic recurrent myoglobinuria
Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, late-onset
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Hereditary myopathy with early respiratory failure
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Hyaline body myopathy
ISPD-related limb-girdle muscular dystrophy R20
Intermediate nemaline myopathy
KLHL9-related early-onset distal myopathy
King-Denborough syndrome
Laing early-onset distal myopathy
Laminin subunit alpha 2-related congenital muscular dystrophy
Late-onset distal myopathy, Markesbery-Griggs type
Limb-girdle muscular dystrophy due to POMK deficiency
MYH7-related late-onset scapuloperoneal muscular dystrophy
Malignant hyperthermia of anesthesia
Megaconial congenital muscular dystrophy
Miyoshi myopathy
Moderate multiminicore disease with hand involvement
Muscle filaminopathy
Muscle-eye-brain disease
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Muscular dystrophy, Selcen type
Myosclerosis
Neurogenic scapuloperoneal syndrome, Kaeser type
Neutral lipid storage myopathy
POMGNT1-related limb-girdle muscular dystrophy R15
POMT1-related limb-girdle muscular dystrophy R11
POMT2-related limb-girdle muscular dystrophy R14
Progressive scapulohumeroperoneal distal myopathy
Reducing body myopathy
Rigid spine syndrome
Rippling muscle disease
Severe congenital nemaline myopathy
Spheroid body myopathy
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
TNP03-related limb-girdle muscular dystrophy D2
TOR1AIP1-related limb-girdle muscular dystrophy
TRAPPC11-related limb-girdle muscular dystrophy R18
TRIM32-related limb-girdle muscular dystrophy R8
Telethonin-related limb-girdle muscular dystrophy R7
Tibial muscular dystrophy
Titin-related limb-girdle muscular dystrophy R10
Typical nemaline myopathy
Walker-Warburg syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked centronuclear myopathy
X-linked myopathy with postural muscle atrophy
X-linked myotubular myopathy-abnormal genitalia syndrome
X-linked scapuloperoneal muscular dystrophy
Zebra body myopathy
List of genes tested (including panels) (62)
ACTA1
ANO5
B3GALNT2
B4GAT1
BAG3
BIN1
CAPN3
CAV3
CHKB
COL6A1
COL6A2
COL6A3
CPT2
CRPPA
CRYAB
DAG1
DES
DMD
DNAJB6
DNM2
DYSF
EMD
FHL1
FKRP
FKTN
FLNC
GAA
GMPPB
ISCU
KLHL9
LAMA2
LARGE1
LDB3
LMNA
LPIN1
MTM1
MYH7
MYOT
PNPLA2
POMGNT1
POMK
POMT1
POMT2
PYGM
RXYLT1
RYR1
SELENON
SGCA
SGCB
SGCD
SGCG
SMCHD1
TCAP
TIA1
TNNT1
TNPO3
TOR1AIP1
TPM2
TPM3
TRAPPC11
TRIM32
TTN

Additional information

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.