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Molekulargenetische Diagnostik

Moleculargenetic Diagnostics

Contact person for molecular genetics tests

Frau Birgit Neitzel
Tel. +49 (0)89/30 90 886-553

Moleculargenetic Diagnostics

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Mitochondrial diseases

Dr. Rita Horvath, PD Dr. med. Angela Abicht, Dr. rer. nat. Birgit Czermin

Mitochondriopathies - Overview

Coenzym Q10 defects - COQ2, COQ9, PDSS1, PDSS2, CABC1/ADCK3, APTX, ETFDH, EFTA, EFTB

Infantile (Hepato)enzephalopathy - DGUOK, MPV17, POLG, TK2, SUCLA2, SUCLG1, RRM2B, PEO1/Twinkle

Kearns-Sayre Syndrome, KSS, Chronic Progressive Ophtalmoplegia, CPEO - POLG, PEO1, ANT1, POLG2, RRM2B, OPA1

Leigh/Leigh-like Syndrome - MTATP6, PDHA1, SURF1

MELAS - Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-Like Episodes - mtDNA deletion

MERRF - Myoclonus Epilepsy With Ragged Red Fibers

Mitochondrial Cardiomyopathy - mt-tRNAs, MTATP6 MTATP8, TAZ, SCO2,SLC25A3, TMEM70, COX15, SDHA

Mitochondrial Myopathy

MNGIE / Mitochondrial Neurogastrointestinal Encephalomyopathy, - ECGF1/TYMF

Mitochondrial Translation defect - mt-tRNA, TSFM, EFG1/GFM1, TUFM, MRPS16, TRMU, PUS1, YARS2

Multiple Acyl-CoA-Dehydrogenase Defects - ETFA, ETFB, ETFDH

NARP / Neuropathy, Ataxia, Retinitis pigmentosa, MTATP6, MTATP8

LHON / Optical Atrophies: Leber's Hereditary Optic Neuropathy, - ND1, ND4, ND6

Optic Atrophies: Autosomal Dominant Optic Atrophy, ADOA - OPA1

Pearson Syndrome

Rhabdomyolysis and exercise intolerance - MTCYB, CPT2, ETFDH, LPIN1

SANDO / Sensory Ataxia Neuropathy, Dysarthria, Opthalmoplegia - POLG, PEO1/Twinkle

Thiamine-Responsive Megaloblastic Anemia, TRMA - SLC19A2

Wolfram Syndrome WFS1

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