Orphanet: Diagnostik der Nemalin Myopathie ACTA1 Gen

Search for a diagnostic test

* (*) mandatory field

Diagnosis of nemaline myopathy (ACTA1 gene)

  • Institut für Humangenetik
  • Universität Würzburg - Biozentrum
  • Am Hubland
  • 97074 WÜRZBURG
  • Director of laboratory : Dr Simone ROST
  • More information
  • Phone : 49 (0)931 318 4070
  • Additional Phone : -
  • Fax : 49 (0)931 318 4434
  • Website
  • Contact
Last update: November 2019

Responsible of diagnostic test


Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

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.