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Diagnosis of heart diseases (NGS screening panel: 263 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 27/11/2018
  • genetikum - Genetische Beratung und Diagnostik
  • genetikum - Zweigniederlassung Neu-Ulm
  • Wegenerstr. 15
  • 89231 NEU-ULM
  • GERMANY
  • Director of laboratory : Dr Dieter GLAESER
  • More information
  • Phone : 49 (0)731 9849 00
  • Additional Phone : -
  • Fax : 49 (0)731 9849 020
  • Website
  • Contact
Last update: November 2018

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes (Panel description)

List of diseases tested (28)
ATTRV122I amyloidosis
Andersen-Tawil syndrome
Atrial standstill
Brugada syndrome
Cardiomyopathy-hypotonia-lactic acidosis syndrome
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Ebstein malformation of the tricuspid valve
Familial atrial fibrillation
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated dilated cardiomyopathy
Familial isolated restrictive cardiomyopathy
Familial progressive cardiac conduction defect
Familial short QT syndrome
Familial sick sinus syndrome
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Glycogen storage disease due to LAMP-2 deficiency
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Heart-hand syndrome, Slovenian type
Idiopathic ventricular fibrillation, non Brugada type
Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
Jervell and Lange-Nielsen syndrome
LMNA-related cardiocutaneous progeria syndrome
Left ventricular noncompaction
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Romano-Ward syndrome

Additional information

Quality management

EQA  EQA

EQA scheme(s) organized by EMQN

Cardiac genetics - Hypertrophic cardiomyopathies
2018, 2019
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.