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Neuromuscular

NeuromuscularFor neuromuscular disorders we offer exome sequencing diagnostics and single gene diagnostics.

Below you can find all the neuromuscular disorders we currently offer. Please click on a disorder for more information about the price and to place your order. You can also visit our ordering site directly.


Exome sequencing diagnostics:
 
  • Muscle disorders (147 genes)


Single gene diagnostics:
  Updated 9th of march 2018

 

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

 

B

Bethlem myopathy
Brody myopathy

C

Central Core Disease
Centronuclear myopathy
Congenital myopathy
Core myopathy

F

Fibrosis of extraocular muscles, congenital

H

Hyperkalemic periodic paralysis
Hyperthermia, malignant
Hypokalemic periodic paralysis

I

Inclusion body myopathy

L

Lethal congenital contracture syndrome
Limb-girdle muscular dystrophy

M

McLeod syndrome
Multiminicore disease
Muscle-Eye-Brain disease
Myasthenic syndrome
Myofibrillar myopathy
Myotonia congenita
Myotonic Dystrophy

N

Nemaline myopathy
Neutral lipid storage disease with myopathy
Nonake myopathy

O

Oculopharyngeal muscular dystrophy (OPMD)

P

Paramyotonia congenita
Polyglucosan body disease, adult form
Polyglucosan body myopathy
Proximal myopathy and ophthalmoplegia

R

Rigid Spine Muscular Dystrophy

S

Spinal muscular atrophy, distal

U

Ullrich congenital muscular dystrophy

V

Visceral myopathy

W

Walker-Warburg (-like) syndrome

Genome Diagnostics Nijmegen - Department of Human Genetics - Radboud university medical center - P.O. Box 9101 - 6500 HB Nijmegen - The Netherlands - tel +31 (0)24 3613799 - 
E-mail: info@genomediagnosticsnijmegen.nl 

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