Mitochondrial

mitochondrialFor mitochondrial disorders we offer exome sequencing diagnostics and single gene diagnostics.

Below you can find all the mitochondrial 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:
 


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

 

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3-Methylglutaconic aciduria

A

Aconitase deficiency
Alpha-keto acid dehydrogenase
Anemia

B

Brody myopathy

C

Cerebral creatine deficiency syndrome
Charcot-Marie-Tooth disease
Citrate synthase deficiency
Coenzyme Q10 deficiency
Complex (oxphos) deficiency, combined
Complex I deficiency
Complex II deficiency
Complex III deficiency
Complex IV deficiency
Complex V deficiency

D

Dihydrolipoamide dehydrogenase

G

Growth hormone deficiency

H

Hyperuricemia- pulmonary hypertension- renal failure and alkalosis
Hypomyelination

I

Isocitrate dehydrogenase deficiency

L

Leigh syndrome
Leukoencephalopathy
Lipoic acid synthase deficiency

M

Malate dehydrogenase deficiency
Megdel syndrome
Mitochondrial disorders (WES)
Mitochondrial DNA depletion syndrome
Mitochondrial PEPCK deficiency
Mitochondriopathy
Multiple mitochondrial dysfunctions syndrome

O

Ophthalmoplegia, chronic progressive (PEO)
Optic atrophy

P

Perrault syndrome
Prohibitin deficiency
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase kinase deficiency
Pyruvate dehydrogenase phosphatase deficiency

S

Sengers syndrome
Spastic paraplegia, autosomal recessive

T

Thiamine metabolism dysfunction syndrome