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Diagnosis of mitochondrial diseases (Panel)

UF de cardiogénétique et myogénétique moléculaire et cellulaire
Centre de génétique moléculaire et chromosomique
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
47-83 boulevard de l'Hôpital
75013 PARIS
FRANCE
Director of laboratory : Dr Pascale A RICHARD
More information

Phone : 33 (0)1 42 17 76 47/ 76 64
Additional Phone : -
Fax : 33 (0)1 42 17 76 18
Website

Last update: February 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Mutation scanning/screening and sequence analysis of selected exons

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (131)

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Acute infantile liver failure-multisystemic involvement syndrome

Acyl-CoA dehydrogenase 9 deficiency

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

Alpers-Huttenlocher syndrome

Amish lethal microcephaly

Amyotrophic lateral sclerosis

Autosomal dominant Charcot-Marie-Tooth disease type 2A2

Autosomal dominant mitochondrial myopathy with exercise intolerance

Autosomal dominant optic atrophy plus syndrome

Autosomal dominant optic atrophy, classic form

Autosomal dominant progressive external ophthalmoplegia

Autosomal recessive ataxia due to ubiquinone deficiency

Autosomal recessive progressive external ophthalmoplegia

Autosomal recessive spastic ataxia with leukoencephalopathy

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Biotin-thiamine-responsive basal ganglia disease

Björnstad syndrome

Cardiomyopathy-hypotonia-lactic acidosis syndrome

Carnitine-acylcarnitine translocase deficiency

Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

Combined oxidative phosphorylation defect type 13

Combined oxidative phosphorylation defect type 14

Combined oxidative phosphorylation defect type 15

Combined oxidative phosphorylation defect type 2

Combined oxidative phosphorylation defect type 20

Combined oxidative phosphorylation defect type 21

Combined oxidative phosphorylation defect type 25

Combined oxidative phosphorylation defect type 4

Combined oxidative phosphorylation defect type 8

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

DNA2-related mitochondrial DNA deletion syndrome

DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Early infantile epileptic encephalopathy

Early myoclonic encephalopathy

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

Familial infantile bilateral striatal necrosis

Familial isolated dilated cardiomyopathy

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

Frontotemporal dementia with motor neuron disease

GRACILE syndrome

Genetic recurrent myoglobinuria

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Hereditary motor and sensory neuropathy type 5

Hereditary motor and sensory neuropathy type 6

Hereditary myopathy with lactic acidosis due to ISCU deficiency

Hereditary pheochromocytoma-paraganglioma

Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

Hypotonia with lactic acidemia and hyperammonemia

Infantile onset spinocerebellar ataxia

Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

Isolated ATP synthase deficiency

Isolated complex I deficiency

Isolated complex III deficiency

Isolated cytochrome C oxidase deficiency

Isolated succinate-CoQ reductase deficiency

Kearns-Sayre syndrome

Leber hereditary optic neuropathy

Leber plus disease

Leigh syndrome with cardiomyopathy

Leigh syndrome with leukodystrophy

Leigh syndrome with nephrotic syndrome

Lethal infantile mitochondrial myopathy

Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

Lower motor neuron syndrome with late-adult onset

MEGDEL syndrome

MT-ATP6-related mitochondrial spastic paraplegia

Malignant migrating partial seizures of infancy

Maternally-inherited diabetes and deafness

Megaconial congenital muscular dystrophy

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 DNA-associated Leigh syndrome

Mitochondrial DNA-related progressive external ophthalmoplegia

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 non-syndromic sensorineural deafness

Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure

Mohr-Tranebjaerg syndrome

Multiple mitochondrial dysfunctions syndrome type 2

Multiple mitochondrial dysfunctions syndrome type 3

Multiple mitochondrial dysfunctions syndrome type 4

Multiple system atrophy, cerebellar type

Multiple system atrophy, parkinsonian type

Myopathy and diabetes mellitus

Navajo neurohepatopathy

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Ovarioleukodystrophy

Pancreatic insufficiency-anemia-hyperostosis syndrome

Periodic paralysis with later-onset distal motor neuropathy

Perrault syndrome

Pontocerebellar hypoplasia type 1

Pontocerebellar hypoplasia type 6

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Progressive polyneuropathy with bilateral striatal necrosis

Pyruvate dehydrogenase E3-binding protein deficiency

Recessive mitochondrial ataxia syndrome

Renal tubulopathy-encephalopathy-liver failure syndrome

SURF1-related Charcot-Marie-Tooth disease type 4

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

Severe X-linked mitochondrial encephalomyopathy

Severe early-onset axonal neuropathy due to MFN2 deficiency

Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency

Spastic paraplegia type 7

Spinocerebellar ataxia type 21

Spinocerebellar ataxia type 28

Spinocerebellar ataxia with epilepsy

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

TMEM70-related mitochondrial encephalo-cardio-myopathy

Thiamine-responsive encephalopathy

X-linked Charcot-Marie-Tooth disease type 4

X-linked hereditary sensory and autonomic neuropathy with deafness

List of genes tested (including panels) (175)

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