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Diagnosis of myopathy and muscular dystrophy (Wide Panel)

Laboratoire de génétique moléculaire
IURC - Institut Universitaire de Recherche Clinique
641 Avenue du Doyen Gaston Giraud
34093 MONTPELLIER CEDEX 5
FRANCE
Director of laboratory : Pr Michel KOENIG
More information

Phone : 33 (0)4 11 75 98 79
Additional Phone : -
Fax : 33 (0)4 11 75 98 82
Contact
email

Last update: January 2019

Responsible of diagnostic test

Pr Michel KOENIG

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Mutation scanning/screening and sequence analysis of selected exons

NGS sequencing (except WES)

Sequence analysis: entire coding region

NGS sequencing (except WES)

Deletion / Duplication analysis

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (132)

Adenylosuccinate synthetase-like 1-related distal myopathy

Adult-onset distal myopathy due to VCP mutation

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

BVES-related limb-girdle muscular dystrophy

Benign Samaritan congenital myopathy

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

Bethlem myopathy

Calpain-3-related limb-girdle muscular dystrophy R1

Central core disease

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Childhood-onset nemaline myopathy

Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome

Classic multiminicore myopathy

Congenital fiber-type disproportion myopathy

Congenital generalized hypercontractile muscle stiffness syndrome

Congenital lethal myopathy, Compton-North type

Congenital multicore myopathy with external ophthalmoplegia

Congenital muscular dystrophy due to LMNA mutation

Congenital muscular dystrophy with cerebellar involvement

Congenital muscular dystrophy with integrin alpha-7 deficiency

Congenital muscular dystrophy with intellectual disability

Congenital muscular dystrophy without intellectual disability

Congenital muscular dystrophy, Fukuyama type

Congenital muscular dystrophy, Ullrich type

Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Congenital myopathy with excess of thin filaments

Congenital myopathy with internal nuclei and atypical cores

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

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Distal anoctaminopathy

Distal myopathy with anterior tibial onset

Distal myopathy with posterior leg and anterior hand involvement

Distal myopathy, Tateyama type

Distal myopathy, Welander type

Distal myotilinopathy

Distal nebulin myopathy

Dysferlin-related limb-girdle muscular dystrophy R2

Early-onset myopathy with fatal cardiomyopathy

Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

Epidermolysis bullosa simplex with muscular dystrophy

FKRP-related limb-girdle muscular dystrophy R9

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

Familial isolated arrhythmogenic ventricular dysplasia, biventricular form

Familial isolated arrhythmogenic ventricular dysplasia, left dominant form

Familial isolated arrhythmogenic ventricular dysplasia, right dominant form

Familial isolated dilated cardiomyopathy

Familial isolated restrictive cardiomyopathy

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

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogen storage disease due to acid maltase deficiency, late-onset

HNRNPDL-related limb-girdle muscular dystrophy D3

Heart-hand syndrome, Slovenian type

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

Hereditary myopathy with early respiratory failure

Hyaline body myopathy

Hypokalemic periodic paralysis

ISPD-related limb-girdle muscular dystrophy R20

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Intermediate nemaline myopathy

KLHL9-related early-onset distal myopathy

King-Denborough syndrome

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome

LIMS2-related limb-girdle muscular dystrophy

Laing early-onset distal myopathy

Laminin subunit alpha 2-related congenital muscular dystrophy

Late-onset distal myopathy, Markesbery-Griggs type

Left ventricular noncompaction

MYH7-related late-onset scapuloperoneal muscular dystrophy

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

Myopathic Ehlers-Danlos syndrome

Native American myopathy

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

Periodic paralysis with transient compartment-like syndrome

Plectin-related limb-girdle muscular dystrophy R17

Progressive scapulohumeroperoneal distal myopathy

Proximal myopathy with focal depletion of mitochondria

Reducing body myopathy

Rigid spine syndrome

Rippling muscle disease

Severe congenital nemaline myopathy

Spheroid body myopathy

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

Thyrotoxic periodic paralysis

Tibial muscular dystrophy

Titin-related limb-girdle muscular dystrophy R10

Tubular aggregate myopathy

Typical nemaline myopathy

Vacuolar myopathy with sarcoplasmic reticulum protein aggregates

Vocal cord and pharyngeal distal 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) (88)

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