Cardiopathies, hereditary (gene panel)

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Genetic test Export to PDF

Full name:	Cardiopathies, hereditary (gene panel)
Test type:	Clinical
Test specialty:	Molecular Genetics
Test purpose:	Post-natal Diagnosis
Specimen:	Peripheral (whole) blood on EDTA
Method category:	Sequence analysis: entire coding region
Method technique:	Next Generation Sequencing (NGS)
Laboratory:	Centrum Menselijke Erfelijkheid - KUL
RIZIV code:	565493-565504
EQA:	2015 Hypertrophic cardiomyopathies EMQN 2019 Cardiac Arrhythmias EMQN 2020 Hypertrophic cardiomyopathies EMQN 2021 Cardiac genetics (arrhythmias) EMQN 2022 Cardiac genetics (Hypertrophic cardiomyopathies) EMQN
Accreditation (ISO 15189):	2021-07-08 / 2026-02-02
Turnaround time (maximum):	upon request
Document(s):	Request form (20210603) - KUL.pdf626.4 KB cardiomyopathies and cardiac arrhythmias Request Form - KUL.pdf539.02 KB
Created:	17 Jul 2019 - 16:38
Changed:	01 Mar 2023 - 14:51
URL:	https://laboboeken.nexuzhealth.com/pboek/internet/GHB%20CME/14930

Related Diseases

• ATTRV122I amyloidosis
• ATTRV30M amyloidosis
• Andersen-Tawil syndrome
• Atrial septal defect, ostium secundum type
• Atrial standstill
• Barth syndrome
• Brugada syndrome
• Carvajal syndrome
• Catecholaminergic polymorphic ventricular tachycardia
• Congenital fiber-type disproportion myopathy
• Congenital muscular dystrophy due to LMNA mutation
• Ebstein malformation of the tricuspid valve
• Erythrokeratodermia-cardiomyopathy syndrome
• Fabry disease
• Familial atrial fibrillation
• Familial bicuspid aortic valve
• 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
• Familial thoracic aortic aneurysm and aortic dissection
• Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
• Glycogen storage disease due to LAMP-2 deficiency
• Heart-hand syndrome, Slovenian type
• Hypoplastic left heart syndrome
• Idiopathic ventricular fibrillation, non Brugada type
• Jervell and Lange-Nielsen syndrome
• Late-onset distal myopathy, Markesbery-Griggs type
• Left ventricular noncompaction
• Muscular dystrophy, Selcen type
• Naxos disease
• Romano-Ward syndrome
• Sinoatrial node dysfunction and deafness
• Tetralogy of Fallot
• Timothy syndrome

Related Laboratories

• Centrum Menselijke Erfelijkheid - KUL

Related Analytes

• ABCC9
• ACTC1
• ACTN2
• AKAP9
• ANK2
• ANKRD1
• BAG3
• CACNA1C
• CACNA1D
• CACNA2D1
• CACNB2
• CALM1
• CALM2
• CALM3
• CALR3
• CASQ2
• CAV3
• CDH2
• CFH
• CRYAB
• CSRP3
• CTNNA3
• DES
• DSC3
• DSG2
• DSP
• DTNA
• FHOD3
• FKTN
• FLNC
• GJA5
• GLA
• GPD1L
• HCN4
• JPH2
• JUP
• KCNA5
• KCND2
• KCND3
• KCNE1
• KCNE2
• KCNE3
• KCNE5
• KCNH2
• KCNJ2
• KCNJ5
• KCNJ8
• KCNQ1
• LAMA4
• LAMP2
• LDB3
• LMNA
• MIB1
• MYBPC3
• MYH6
• MYH7
• MYL2
• MYL3
• MYLK2
• MYOZ2
• MYPN
• NEXN
• NKX2-5
• NOS1AP
• NPPA
• NUP155
• PITX2
• PKP2
• PLN
• PRKAG2
• RBM20
• RYR2
• SCN10A
• SCN1B
• SCN2B
• SCN3B
• SCN4B
• SCN5A
• SEMA3A
• SGCD
• SLC4A3
• SNTA1
• TBX20
• TCAP
• TECRL
• TGFB3
• TJP1
• TMEM43
• TMPO
• TNNI3
• TNNI3K
• TNNT2
• TPM1
• TRDN
• TRIM63
• TRPM4
• TTN
• TTR
• TXNRD2
• VCL
• WWTR1

Related Gene Panels

• Cardiopathies, hereditary (102 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCC9	95.00	0	NM_005691.4 / interpretable range CS1>95%
  ACTC1	95.00	0	NM_005159.5 / interpretable range CS1>95%
  ACTN2	95.00	0	NM_001103.4 / nterpretable range CS1>95%
  AKAP9	95.00	0	NM_005751.5 /interpretable range CS1>95%
  ANK2	95.00	0	NM_001148.6 / interpretable range CS1>95%
  ANKRD1	95.00	0	NM_014391.3 / interpretable range CS1>95%
  BAG3	95.00	0	NM_004281.4 / interpretable range CS1>95%
  CACNA1C	95.00	0	NM_000719.7 / interpretable range CS1>95%
  CACNA1D	95.00	0	NM_000720.4 / interpretable range CS1>95%
  CACNA2D1	95.00	0	NM_000722.4 / interpretable range CS1>95%
  CACNB2	95.00	0	NM_201590.3 / interpretable range CS1>95%
  CALM1	95.00	0	NM_006888.6 / interpretable range CS1>95%
  CALM2	95.00	0	NM_001743.6 / interpretable range CS1>95%
  CALM3	95.00	0	NM_005184.4 / interpretable range CS1>95%
  CALR3	95.00	0	NM_145046.5 / interpretable range CS1>95%
  CASQ2	95.00	0	NM_001232.4 / interpretable range CS1>95%
  CAV3	95.00	0	NM_033337.3 / interpretable range CS1>95%
  CDH2	95.00	0	NM_001792.5 / interpretable range CS1>95%
  CRYAB	95.00	0	NM_001885.3 / interpretable range CS1>95%
  CSRP3	95.00	0	NM_003476.5 / interpretable range CS1>95%
  CTNNA3	95.00	0	NM_013266.4 / interpretable range CS1>95%
  DES	95.00	0	NM_001927.4 / interpretable range CS1>95%
  DSC3	95.00	0	NM_024422.6 / interpretable range CS1>95%
  DSG2	95.00	0	NM_001943.5 / interpretable range CS1>95%
  DSP	95.00	0	NM_004415.4 / interpretable range CS1>95%
  DTNA	95.00	0	NM_001390.4 / interpretable range CS1>95%
  CFH	95.00	0	NM_001449.5 / interpretable range CS1>95%
  FHOD3	95.00	0	NM_025135.5 / interpretable range CS1>95%
  FKTN	95.00	0	NM_001079802.2 / interpretable range CS1>95%
  FLNC	95.00	0	NM_001458.5 / interpretable range CS1>95%
  GJA5	95.00	0	NM_005266.7 / interpretable range CS1>95%
  GLA	95.00	0	NM_000169.3 / interpretable range CS1>95%
  GPD1L	95.00	0	NM_015141.4 / interpretable range CS1>95%
  HCN4	95.00	0	NM_005477.3 / interpretable range CS1>95%
  JPH2	95.00	0	NM_020433.5 / interpretable range CS1>95%
  JUP	95.00	0	NM_002230.4 / interpretable range CS1>95%
  KCNA5	95.00	0	NM_002234.4 / interpretable range CS1>95%
  KCND2	95.00	0	NM_012281.3 / interpretable range CS1>95%
  KCND3	95.00	0	NM_004980.5 / interpretable range CS1>95%
  KCNE1	95.00	0	NM_000219.6 / interpretable range CS1>95%
  KCNE2	95.00	0	NM_172201.2 / interpretable range CS1>95%
  KCNE3	95.00	0	NM_005472.5 / interpretable range CS1>95%
  KCNE5	95.00	0	NM_012282.4 / interpretable range CS1>95%
  KCNH2	95.00	0	NM_000238.4 / interpretable range CS1>95%
  KCNJ2	95.00	0	NM_000891.3 / interpretable range CS1>95%
  KCNJ5	95.00	0	NM_000890.5 / interpretable range CS1>95%
  KCNJ8	95.00	0	NM_004982.4 / interpretable range CS1>95%
  KCNQ1	95.00	0	NM_000218.3 / interpretable range CS1>95%
  LAMA4	95.00	0	NM_002290.5 / interpretable range CS1>95%
  LAMP2	95.00	0	NM_002294.3 / interpretable range CS1>95%
  LDB3	95.00	0	NM_001080116.1 / interpretable range CS1>95%
  LMNA	95.00	0	NM_170707.4 / interpretable range CS1>95%
  MIB1	95.00	0	NM_020774.4 / interpretable range CS1>95%
  MYBPC3	95.00	0	NM_000256.3 / interpretable range CS1>95% / MLPA only in de frame of "Familial hypertrophic cardiomyopathy"
  MYH6	95.00	0	NM_002471.4 / interpretable range CS1>95%
  MYH7	95.00	0	NM_000257.4 / interpretable range CS1>95%
  MYL2	95.00	0	NM_000432.4 / interpretable range CS1>95%
  MYL3	95.00	0	NM_000258.3 / interpretable range CS1>95%
  MYLK2	95.00	0	NM_033118.4 / interpretable range CS1>95%
  MYOZ2	95.00	0	NM_016599.5 / interpretable range CS1>95%
  MYPN	95.00	0	NM_032578.4 / interpretable range CS1>95%
  NEXN	95.00	0	NM_144573.4 / interpretable range CS1>95%
  NKX2-5	95.00	0	NM_004387.4 / interpretable range CS1>95%
  NOS1AP	95.00	0	NM_014697.3 / interpretable range CS1>95%
  NPPA	95.00	0	NM_006172.4 / interpretable range CS1>95%
  NUP155	95.00	0	NM_153485.3 / interpretable range CS1>95%
  PITX2	95.00	0	NM_153427.2 / interpretable range CS1>95%
  PKP2	95.00	0	NM_004572.4 / interpretable range CS1>95%
  PLN	95.00	0	NM_002667.5 / interpretable range CS1>95%
  PRKAG2	95.00	0	NM_016203.4 / interpretable range CS1>95%
  RBM20	95.00	0	NM_001134363.3 / interpretable range CS1>95%
  RYR2	95.00	0	NM_001035.3 / interpretable range CS1>95%
  SLC4A3	95.00	0	NM_201574.2 / interpretable range CS1>95%
  SCN10A	95.00	0	NM_006514.4 / interpretable range CS1>95%
  SCN1B	95.00	0	NM_001037.5 / interpretable range CS1>95%
  SCN2B	95.00	0	NM_004588.5 / interpretable range CS1>95%
  SCN3B	95.00	0	NM_018400.4 / interpretable range CS1>95%
  SCN4B	95.00	0	NM_174934.4 / interpretable range CS1>95%
  SCN5A	95.00	0	NM_198056.3 / interpretable range CS1>95%
  SEMA3A	95.00	0	NM_006080.3 / interpretable range CS1>95%
  SGCD	95.00	0	NM_000337.6 / interpretable range CS1>95%
  SNTA1	95.00	0	NM_003098.3 / interpretable range CS1>95%
  WWTR1	95.00	0	NM_000116.5 / interpretable range CS1>95%
  TBX20	95.00	0	NM_001077653.2 / interpretable range CS1>95%
  TCAP	95.00	0	NM_003673.4 / interpretable range CS1>95%
  TECRL	95.00	0	NM_001010874.5 / interpretable range CS1>95%
  TGFB3	95.00	0	NM_003239.5 / interpretable range CS1>95%
  TJP1	95.00	0	NM_003257.5 / interpretable range CS1>95%
  TMEM43	95.00	0	NM_024334.3 / interpretable range CS1>95%
  TMPO	95.00	0	NM_003276.2 / interpretable range CS1>95%
  TNNI3	95.00	0	NM_000363.5 / interpretable range CS1>95%
  TNNI3K	95.00	0	NM_015978.3 / interpretable range CS1>95%
  TNNT2	95.00	0	NM_001001430.3 / interpretable range CS1>95%
  TPM1	95.00	0	NM_001018005.2 / interpretable range CS1>95%
  TRDN	95.00	0	NM_006073.4 / interpretable range CS1>95%
  TRIM63	95.00	0	NM_032588.4 / interpretable range CS1>95%
  TRPM4	95.00	0	NM_017636.4 / interpretable range CS1>95%
  TTN	95.00	0	NM_001267550.1 / interpretable range CS1>95%
  TTR	95.00	0	NM_000371.4 / interpretable range CS1>95%
  TXNRD2	95.00	0	NM_006440.5 / interpretable range CS1>95%
  VCL	95.00	0	NM_014000.3 / interpretable range CS1>95%