x

Share
Share

Search for a diagnostic test

Diagnosis of Mitochondriopathies (NGS screening panel, 243 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 21/06/2018

Medizinisch Genetisches Zentrum (MGZ)
Medizinisch Genetisches Zentrum München
Bayerstrasse 3-5
80335 MÜNCHEN
GERMANY
Director of laboratory : Pr Elke HOLINSKI-FEDER
More information

Phone : 49 (0)89 3090 8860
Additional Phone : -
Fax : 49 (0)89 3090 8866
Website
Contact
email

Last update: June 2018

Responsible of diagnostic test

Pr Elke HOLINSKI-FEDER

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

NGS sequencing (except WES)

Deletion / Duplication analysis

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (104)

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

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

Ataxia-oculomotor apraxia type 1

Autosomal dominant mitochondrial myopathy with exercise intolerance

Autosomal dominant optic atrophy and cataract

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 optic atrophy, OPA7 type

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

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 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 4

Combined oxidative phosphorylation defect type 7

Combined oxidative phosphorylation defect type 8

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

DNA2-related mitochondrial DNA deletion syndrome

DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

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

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

Kearns-Sayre syndrome

Leber hereditary optic neuropathy

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

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

Lipoic acid synthetase deficiency

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

Pancreatic insufficiency-anemia-hyperostosis syndrome

Perrault syndrome

Pontocerebellar hypoplasia type 6

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Pyruvate dehydrogenase E3 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

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

List of genes tested (including panels) (242)

Additional information

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.