Orphanet: Diagnostik POLG Gen assoziierter mitochondrialer Krankheiten

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Diagnosis of POLG gene-associated mitochondrial diseases

Despite our efforts to ensure that data is up to date, this activity has not been validated since 22/03/2017
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Last update: March 2017

Responsible of diagnostic test


Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques

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.