Orphanet: Diagnostik des Rett Syndroms und �hnlicher Erkrankungen NGS Screening Panel: 21 Gene

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Diagnosis of Rett syndrome and related diseases (NGS screening panel: 21 genes)

  • Abteilung Molekulargenetik
  • Zentrum fr Humangenetik und Laboratoriumsdiagnostik (MVZ)
  • Lochhamer Str. 29
  • Director of laboratory : Dr Imma ROST
  • More information
  • Phone : 49 (0)89 89 55 78 0
  • Additional Phone : -
  • Fax : 49 (0)89 89 55 78 780
  • Website
  • Contact
Last update: July 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
NGS sequencing (except WES)
Methylation analysis
MLPA based techniques
Deletion / Duplication analysis
NGS sequencing (except WES)

Quality management


EQA scheme(s) organized by GenQA

Rett syndrome
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