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
  • 82152 MARTINSRIED
  • GERMANY
  • 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

Purpose(s)

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
 EQA

EQA scheme(s) organized by GenQA

Rett syndrome
2018
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.