Orphanet: Diagnostik bei autosomal dominanter nicht syndromaler sensorineuraler Schwerh�rigkeit Gene: ACTG1, CCDC50, COCH, COL11A2, DIAPH3, DFNA5, DIAPH1, EYA4, GJB2, GJB3, GJB6, KCNQ4, MIRN96, MYH14, MYH9, MYO1A, MYO6, MYO7A, POU4F3, SLC17A8, TECTA, TFCP2L3, TMC1, WFS1, HGF: Sequenzierung, Kopplungsanalyse
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Diagnosis of autosomal dominant non syndromic sensorineural deafness (ACTG1, CCDC50, COCH, COL11A2, DIAPH3, DFNA5, DIAPH1, EYA4, GJB2, GJB3, GJB6, KCNQ4, MIRN96, MYH14, MYH9, MYO1A, MYO6, MYO7A, POU4F3, SLC17A8, TECTA, TFCP2L3, TMC1, WFS1, HGF genes: sequencing, linkage analysis)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 25/06/2014
  • Labor Ingelheim mit Zentrum fr Humangenetik
  • Bioscientia Institut fr Medizinische Diagnostik GmbH
  • Konrad Adenauer Strasse 17
  • 55218 INGELHEIM AM RHEIN
  • GERMANY
  • Director of laboratory : Dr Mojgan DRASDO
  • More information
  • Phone : 49 (0)6132 781 411
  • Additional Phone : -
  • Fax : 49 (0)6132 781 194
  • Website
  • Contact
Last update: June 2014

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

Additional information

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