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Diagnosis of mitochondriopathies (mtDNA/mtRNA)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 10/04/2017
  • Phone : 49 (0)89 3090 8860
  • Additional Phone : -
  • Fax : 49 (0)89 3090 8866
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Last update: April 2017

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
NGS sequencing (except WES)
Deletion / Duplication analysis
PCR based techniques

List of diseases and genes

List of diseases tested (1)

Additional information

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

Mitochondrial metabolic disorders
2017

EQA scheme(s) organized by UKNEQAS

mtDNA
2015, 2016
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.