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Diagnosis of cardiomyopathy (NGS screening panel, 77 genes)

  • Institut für Humangenetik
  • Universität Würzburg - Biozentrum
  • Am Hubland
  • 97074 WÜRZBURG
  • GERMANY
  • Director of laboratory : Dr Simone ROST
  • More information
  • Phone : 49 (0)931 3184064
  • Additional Phone : -
  • Fax : 49 (0)931 3184069
  • Website
  • Contact
Last update: May 2021

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

List of diseases tested (24)
Andersen-Tawil syndrome
Atrial standstill
Brugada syndrome
Carvajal syndrome
Catecholaminergic polymorphic ventricular tachycardia
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Familial atrial fibrillation
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
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
Heart-hand syndrome, Slovenian type
Idiopathic ventricular fibrillation, non Brugada type
Jervell and Lange-Nielsen syndrome
Left ventricular noncompaction
Naxos disease
Romano-Ward syndrome
Timothy syndrome
List of genes tested (including panels) (77)
ABCC9
ACTC1
ACTN2
AKAP9
ANK2
BAG3
CACNA1C
CACNB2
CALM1
CASQ2
CAV3
CRYAB
CSRP3
CTNNA3
DES
DMD
DSC2
DSG2
DSP
DTNA
FHL1
FKTN
FLNC
GLA
GNAI2
GPD1L
HCN4
JPH2
JUP
KCND3
KCNE1
KCNE2
KCNE3
KCNH2
KCNJ2
KCNJ5
KCNQ1
LAMA4
LAMP2
LDB3
LMNA
MYBPC3
MYH6
MYH7
MYL2
MYL3
MYLK2
MYOZ2
MYPN
NEXN
PKP2
PLN
PRDM16
PRKAG2
RAF1
RBM20
RYR2
SCN1B
SCN3B
SCN4B
SCN5A
SDHA
SGCD
SNTA1
TAZ
TCAP
TGFB3
TMEM43
TNNC1
TNNI3
TNNT2
TPM1
TRDN
TRPM4
TTN
TTR
VCL

Additional information

Quality management

EQA  EQA

EQA scheme(s) organized by EMQN

CARDIAC (ARR)
2020
Cardiac genetics - Hypertrophic cardiomyopathies
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.