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Diagnosis of mitochondrial diseases (Panel)

Plateau de Biologie et Médecine Moléculaire
CHU d'Angers
4 rue Larrey
49933 ANGERS CEDEX 9
FRANCE
Director of laboratory : Dr Odile BLANCHET
More information

Phone : 33 (0)2 41 35 38 69
Additional Phone : -
Fax : 33 (0)2 41 35 58 83
Website

Last update: September 2022

Responsible of diagnostic test

Pr Vincent PROCACCIO

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

Whole Exome Sequencing (WES)

List of diseases and genes

List of diseases tested (124)

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

Acyl-CoA dehydrogenase 9 deficiency

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

Alpers-Huttenlocher syndrome

Ataxia-oculomotor apraxia type 1

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 intermediate Charcot-Marie-Tooth disease type D

Autosomal recessive progressive external ophthalmoplegia

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Autosomal recessive spastic paraplegia type 55

Autosomal recessive spastic paraplegia type 77

Björnstad syndrome

Cardiomyopathy-hypotonia-lactic acidosis syndrome

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

Childhood-onset spasticity with hyperglycinemia

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 20

Combined oxidative phosphorylation defect type 21

Combined oxidative phosphorylation defect type 23

Combined oxidative phosphorylation defect type 24

Combined oxidative phosphorylation defect type 26

Combined oxidative phosphorylation defect type 27

Combined oxidative phosphorylation defect type 29

Combined oxidative phosphorylation defect type 30

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 cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

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

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

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

GRACILE syndrome

Gamma-aminobutyric acid transaminase deficiency

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Hereditary myopathy with lactic acidosis due to ISCU deficiency

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

Hypotonia with lactic acidemia and hyperammonemia

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Infantile-onset spinocerebellar ataxia

Isolated ATP synthase deficiency

Isolated complex I deficiency

Isolated complex III deficiency

Isolated cytochrome C oxidase deficiency

Isolated succinate-CoQ reductase deficiency

Isolated sulfite oxidase deficiency

Kearns-Sayre syndrome

Leber hereditary optic neuropathy

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

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

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

MEGDEL 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

Mohr-Tranebjaerg syndrome

Multiple mitochondrial dysfunctions syndrome type 1

Multiple mitochondrial dysfunctions syndrome type 2

Multiple mitochondrial dysfunctions syndrome type 3

Multiple mitochondrial dysfunctions syndrome type 4

Navajo neurohepatopathy

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect

Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy

Ocular anomalies-axonal neuropathy-developmental delay syndrome

Oxoglutaric aciduria

Pancreatic insufficiency-anemia-hyperostosis syndrome

Perrault syndrome

Pontocerebellar hypoplasia type 6

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

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 mitochondrial non-syndromic sensorineural deafness

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 neonatal lactic acidosis due to NFS1-ISD11 complex deficiency

Spastic paraplegia type 7

Spinocerebellar ataxia type 28

Spinocerebellar ataxia with epilepsy

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

TMEM70-related mitochondrial encephalo-cardio-myopathy

X-linked creatine transporter deficiency

X-linked sideroblastic anemia and spinocerebellar ataxia

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