Mitochondriopathy

mtDNA - mitochondriopathy

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Mitochondriopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 6 weeks

Method

• Sequence analysis of complete mtDNA / targeted analysis

Remarks
Indications:
Cardiomyopathy, CPEO, Diabetes mellitus, Deafness, Encephalopathy, Gastrointestinopathy, Kearns-Sayre, Leber (LOA/LHON), Leigh, MELAS, MERRF, Myopathy, NARP, Pearson, Ptosis

Preferably (DNA from) muscle biopsy or other clinically affected tissue. Alternatively, a cooled (not frozen) portion of (morning) urine of 50-100 ml (send in <24h), for children this may be collected urine, keep urine cool and DO NOT freeze, DO NOT submit on Friday or weekend. If the morning urine is NOT sent on the same day, then store the urine cell pellet at -20°C (if necessary this may be for a few days) and send on dry ice. EDTA blood can also be used for Pearson or Leber indication, but this gives a chance of false negative results for other indications. In case of doubt, please contact us for consultation: (024)3614567 (Nijmegen) or 043-3871345 (Maastricht).

Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane, Urine, Muscle biopsy, Fibroblast

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