Neurological

NeurologicalFor neurological disorders we offer exome sequencing diagnostics, multiple gene diagnostics and single gene diagnostics.

Below you can find all the neurological 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:
 


Multiple gene diagnostics:
 

Single gene diagnostics:
  Updated 25th of September 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

 

A

Acrodermatitis enteropathica
Adrenoleukodystrophy
Alexander disease
Alternating hemiplegia
Alzheimer disease
Amyloidosis
Amyotrophic lateral sclerosis
Aromatic L-amino acid decarboxylase deficiency
Ataxia + isolated vitamin E deficiency (AVED)
Ataxia and oculomotor apraxia
Ataxia-telangiectasia-like disorder
Ataxia, spastic, autosomal recessive

B

Basal ganglia calcification, idiopathic
Basilar migraine
Benign familial infantile seizures
Boucher-Neuhauser syndrome

C

CAPOS syndrome
Cerebrotendinous xanthomatosis
Charcot-Marie-Tooth disease
Chorea, hereditary, benign
Choreoathetosis, hypothyroidism and neonatal respiratory distress
Cognitive impairment with or without cerebellar ataxia
Complex II deficiency
Congenital indifference to pain
Congenital insensitivity to pain
Cortical dysplasia

D

Dejerine-Sottas Disease
Dopamine beta-hydroxylase deficiency
Dyskinesia
Dystonia
Dystonia, dopamine responsive

E

Epilepsy (WES)
Epilepsy with neurodevelopmental defects (EPND)
Epilepsy, Idiopathic
Epilepsy, myoclonic
Episodic ataxia
Episodic kinesigenic dyskinesia
Episodic pain syndrome
Erythermalgia, primary or idiopathic

F

Familial infantile convulsions with paroxysmal choreoathetosis
Febrile seizures
Fragile-X associated tremor ataxia syndrome
Friedreich Ataxia
Frontotemporal dementia

G

GLUT1 deficiency syndrome
Gyrate atrophy of choroid and retina

H

Hartsfield syndrome
Hemiplegic migraine
Hyperlysinemia
Hypomyelinating leukodystrophy
Hypotonia

I

Inflammatory demyelinating neuropathy

K

Kufor-Rakeb syndrome

L

Lissencephaly
Lowe oculocerebrorenal syndrome

M

Marinesco-Sjögren syndrome
Menkes disease
Microcephaly-capillary malformation syndrome
Motor neuropathy
Movement disorders (WES)
Muscle disorders (WES)

N

Neurodegeneration due to cerebral folate transport deficiency
Neurodegeneration with brain iron accumulation
Neuropathies (WES)

P

Parkinson disease (WES)
Parkinson's disease
Paroxysmal extreme pain disorder
Polymicrogyria
Polyneuropathy
Pontocerebellar hypoplasia
Porencephaly, aut. dominant
Primary lateral sclerosis

R

Recurrent neuropathy with pressure palsies
Rigidity and multifocal seizure syndrome
Ritscher-Schinzel syndrome
Roussy-Levy syndrome

S

Sandhoff disease
Schimke immunoosseous dysplasia
Sensory neuropathy
SeSAME syndrome
Short-rib thoracic dysplasia
Sjogren-Larsson syndrome
Small fiber neuropathy
Smith-Magenis syndrome
Sotos syndrome
Spastic paralysis, infantile onset ascending (IAHSP)
Spastic paraplegia, autosomal dominant
Spastic paraplegia, autosomal recessive
Spastic quadriplegic cerebral palsy
Spinal muscular atrophy
Spinocerebellar ataxia, aut. dominant
Spinocerebellar ataxia, autosomal recessive

T

Tay Sachs disease
Thiamine metabolism dysfunction syndrome

W

Wiedemann-Steiner syndrome