mtDNA depletion syndrome (6 genes) - VUB

Gene panel Export to PDF

Full name:	mtDNA depletion syndrome (6 genes) - VUB
Type of panel:	in-house
Provider:	Laboratory
Created:	16 Jul 2019 - 11:59
Changed:	12 Sep 2019 - 08:22

Related Diseases

• Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
• Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
• Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
• Mitochondrial DNA depletion syndrome, myopathic form
• Mitochondrial neurogastrointestinal encephalomyopathy
• Navajo neurohepatopathy

Related Analytes

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
DGUOK
MPV17
RRM2B
TK2
TWNK
TYMP