Orphanet: Diagnosis of Early Onset Epileptic Encephalopathy AARS gene Aminoacyl tRNA Synthetase activity in Fibroblasts

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Diagnosis of Early-Onset Epileptic Encephalopathy (AARS gene; Aminoacyl-tRNA Synthetase activity in Fibroblasts)

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Last update: December 2018

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing
Biochemical genetics
Analyte / Enzyme assay

List of diseases and genes

List of genes tested (including panels) (1)

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.