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Diagnosis of mitochondrial diseases (Panel)

  • Laboratoire de génétique chromosomique et génétique moléculaire
  • Service de génétique
  • CHU de Nice - Hôpital l'Archet 2
  • 151 Route Saint-Antoine de Ginestière BP 3079
  • 06202 NICE CEDEX 3
  • FRANCE
  • Director of laboratory : Pr Véronique PAQUIS-FLUCKLINGER
  • More information
  • Phone : 33 (0)4 92 03 64 60
  • Additional Phone : 33 (0)4 92 03 62 43
  • Fax : 33 (0)4 92 03 64 65
  • Website
  • Contact
Last update: October 2023

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Sequence analysis: entire coding region
Whole Exome Sequencing (WES)

List of diseases and genes (Panel description)

List of diseases tested (231)
2-methylbutyryl-CoA dehydrogenase deficiency
3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 3
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Adult-onset autosomal recessive sideroblastic anemia
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Aicardi-Goutières syndrome
Alpers-Huttenlocher syndrome
Amish lethal microcephaly
Anauxetic dysplasia
Ataxia-oculomotor apraxia type 1
Atypical glycine encephalopathy
Atypical pantothenate kinase-associated neurodegeneration
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal dominant mitochondrial myopathy with exercise intolerance
Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy, classic form
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant spastic paraplegia type 13
Autosomal dominant spastic paraplegia type 31
Autosomal dominant spastic paraplegia type 4
Autosomal dominant spastic paraplegia type 42
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive ataxia, Beauce type
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive optic atrophy, OPA7 type
Autosomal recessive progressive external ophthalmoplegia
Autosomal recessive sideroblastic anemia
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive spastic ataxia with leukoencephalopathy
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Autosomal recessive spastic paraplegia type 20
Autosomal recessive spastic paraplegia type 28
Autosomal recessive spastic paraplegia type 55
Barth syndrome
Beta-ketothiolase deficiency
Biotin-thiamine-responsive basal ganglia disease
Biotinidase deficiency
Björnstad syndrome
COFS syndrome
Carbamoyl-phosphate synthetase 1 deficiency
Cardiomyopathy-hypotonia-lactic acidosis syndrome
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, neonatal form
Carnitine palmitoyl transferase II deficiency, severe infantile form
Carnitine-acylcarnitine translocase deficiency
Cerebrotendinous xanthomatosis
Charcot-Marie-Tooth disease type 4G
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Childhood-onset spasticity with hyperglycinemia
Citrullinemia type II
Classic maple syrup urine disease
Classic pantothenate kinase-associated neurodegeneration
Cockayne syndrome type 2
Combined oxidative phosphorylation defect type 11
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 15
Combined oxidative phosphorylation defect type 17
Combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 23
Combined oxidative phosphorylation defect type 25
Combined oxidative phosphorylation defect type 4
Combined oxidative phosphorylation defect type 7
Combined oxidative phosphorylation defect type 8
Combined oxidative phosphorylation defect type 9
Congenital bile acid synthesis defect type 4
Congenital cataract-hearing loss-severe developmental delay syndrome
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Congenital glucokinase-related hyperinsulinism
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Congenital lipoid adrenal hyperplasia due to STAR deficency
D,L-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria
DNA2-related mitochondrial DNA deletion syndrome
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Dilated cardiomyopathy with ataxia
Dimethylglycine dehydrogenase deficiency
Distal hereditary motor neuropathy type 5
Early myoclonic encephalopathy
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Epileptic encephalopathy with global cerebral demyelination
Ethylmalonic encephalopathy
FASTKD2-related infantile mitochondrial encephalomyopathy
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Fatal infantile cytochrome C oxidase deficiency
Fatal infantile lactic acidosis with methylmalonic aciduria
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Friedreich ataxia
Fructose-1,6-bisphosphatase deficiency
Fumaric aciduria
GRACILE syndrome
Glutaryl-CoA dehydrogenase deficiency
Glycerol kinase deficiency, adult form
Glycerol kinase deficiency, juvenile form
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Guanidinoacetate methyltransferase deficiency
HSD10 disease, atypical type
HSD10 disease, infantile type
HSD10 disease, neonatal type
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Hereditary sensory and autonomic neuropathy type 1
Holocarboxylase synthetase deficiency
Hyper-IgM syndrome type 5
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism-hyperammonemia syndrome
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperprolinemia type 2
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Hypotonia with lactic acidemia and hyperammonemia
Infantile cerebellar-retinal degeneration
Infantile glycine encephalopathy
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Infantile-onset spinocerebellar ataxia
Intermediate maple syrup urine disease
Intermittent maple syrup urine disease
Isolated ATP synthase deficiency
Isolated complex III deficiency
Isolated cytochrome C oxidase deficiency
Isolated succinate-CoQ reductase deficiency
Isovaleric acidemia
Kearns-Sayre syndrome
L-2-hydroxyglutaric aciduria
L-Arginine:glycine amidinotransferase deficiency
Late-onset nephronophthisis
Leigh syndrome
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Lipoic acid synthetase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
MEGDEL syndrome
MEPAN syndrome
Malonic aciduria
Medium chain acyl-CoA dehydrogenase deficiency
Methylcobalamin deficiency type cblDv1
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Methylmalonic acidemia with homocystinuria, type cblD
Microphthalmia with linear skin defects syndrome
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Mitochondrial myopathy and sideroblastic anemia
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial pyruvate carrier deficiency
Mitochondrial trifunctional protein deficiency
Mohr-Tranebjaerg syndrome
Monoamine oxidase A deficiency
Multiple acyl-CoA dehydrogenase deficiency, mild type
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
Multiple mitochondrial dysfunctions syndrome type 1
Multiple mitochondrial dysfunctions syndrome type 2
Multiple mitochondrial dysfunctions syndrome type 3
Neonatal glycine encephalopathy
Neonatal intrahepatic cholestasis due to citrin deficiency
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Neutral lipid storage myopathy
Non-specific early-onset epileptic encephalopathy
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Ornithine transcarbamylase deficiency
Oxoglutaric aciduria
Pancreatic insufficiency-anemia-hyperostosis syndrome
Parkinson-dementia complex of Guam
Paroxysmal non-kinesigenic dyskinesia
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Perrault syndrome
Phosphoenolpyruvate carboxykinase deficiency
Pontocerebellar hypoplasia type 6
Porphyria variegata
Postaxial acrofacial dysostosis
Primary hyperoxaluria type 3
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
Progressive polyneuropathy with bilateral striatal necrosis
Propionic acidemia
Pyruvate carboxylase deficiency, benign type
Pyruvate carboxylase deficiency, infantile type
Pyruvate carboxylase deficiency, severe neonatal type
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E2 deficiency
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Pyruvate dehydrogenase phosphatase deficiency
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Rare mitochondrial non-syndromic sensorineural deafness
Recessive mitochondrial ataxia syndrome
Renal tubulopathy-encephalopathy-liver failure syndrome
Reticular dysgenesis
Retinitis pigmentosa
SURF1-related Charcot-Marie-Tooth disease type 4
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Severe X-linked mitochondrial encephalomyopathy
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Short chain acyl-CoA dehydrogenase deficiency
Spastic paraplegia type 7
Spinocerebellar ataxia type 28
Spinocerebellar ataxia with epilepsy
Systemic primary carnitine deficiency
TMEM70-related mitochondrial encephalo-cardio-myopathy
Thiamine-responsive encephalopathy
Thiamine-responsive maple syrup urine disease
Thiamine-responsive megaloblastic anemia syndrome
Very long chain acyl-CoA dehydrogenase deficiency
Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Wolfram syndrome
X-linked Charcot-Marie-Tooth disease type 6
X-linked creatine transporter deficiency
X-linked erythropoietic protoporphyria
X-linked sideroblastic anemia
Young-onset Parkinson disease
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