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CardioGene - Genetic testing for cardiovascular disease

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Download the CardioGene brochure

Depending on your /your family’s particular type of ICC, the following panel of genes are tested. The appropriate panel will be discussed with you prior to testing.

CardioGene

ICC Causing Gene

HCM

MYH7, MYBPC3, TNNT2, TNNi3, TPM1, TNNC1, MYL2,MYL3, ACTC1, PRKAG2, LAMP2, PTPN11, GLA, DES, TTR,FLNC, PLN, FHL1, CSRP3, ANKRD1 and ACTN2

ARVC/DCM

ACTC1, BAG3, DES, DMD, DSP, FLNC, LMNA, MYBPC3, MYH7, PKP2, PLN, RBM20, TAZ, TNNC1, TNNI3, TNNT2, TPM1, TTN, ABCC9, ACTA1, ACTN2, ALMS1, ANKRD1, CAV3, CRYAB, CSRP3, DNAJC19, DOLK, DSC2, DSG2, EMD, EYA4, FHL2, FHOD3, FKRP, FKTN, FOXD4, GAA, GATA4, GATA6, GATAD1, GLB1, HFE, JUP, LAMA2, LAMA4, LAMP2, LDB3, MURC, MYH6, MYL2, MYL3, MYOT, MYPN, NEBL, NEXN, PRDM16, PSEN1, PSEN2, RAF1, RYR2, SCN5A, SGCD, SLC22A5, TBX20, TCAP, TMEM43, TMPO, TTR, TXNRD2, VCL, BRAF, CTF1, GLA, KCNJ2, KCNJ8,NKX2-­5, PDLIM3, PTPN11, SGCA, and SGCB

IAS

KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CACNAIC and RYR2

ICD/SD

ACTA2, ACTC1, ACVRL1, APOB, BAG3, BMPR2, BRAF, CACNA1C, CALM1, CALM2, CASQ2, COL3A1, DES, DMD, DSC2, DSG2, DSP, EMD, ENG, FBN1, FLNC, GLA, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KRAS, LAMP2, LDLR, LMNA, MYBPC3, MYH7, MYL2, MYL3, NKX2-­5, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN10A, SCN5A, SOS1, TAZ, TGFBR1, TGFBR2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, AARS2, ABCC9, ACAD9, ACADM, ACADVL, ACTA1, ACTN2, ADAMTSL4, AGK, AGL, AGPAT2, AKAP9, ALMS1, ANK2, ANKRD1, APOA5, APOC3, ATPAF2, BMPR1B, BSCL2, CACNA1D, CACNA2D1, CACNB2, CALR3, CAPN3, CAV1, CAV3, CBL, CBS, CETP, COL1A1, COL1A2, COL5A1, COL5A2, COQ2, COX15, COX6B1, CRELD1, CRYAB, CSRP3, CTNNA3, DLD, DNAJC19, DOLK, DTNA, ELN, EYA4, FAH, FBN2, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNA, FOXD4, GAA, GATA4, GATA6, GATAD1, GDF2, GFM1, GJA1, GJA5, GLB1, GNPTAB, GPD1L, GUSB, HCN4, HFE, HRAS, JAG1, JPH2, KCNA5, KCND3, KCNE1L, KCNE3, KCNJ5, KCNJ8, KCNK3, LAMA2, LAMA4, LDB3, LIAS, LRP6, MAP2K1, MAP2K2, MIB1, MLYCD, MRPL3, MRPS22, MTO1, MURC, MYH11, MYH6, MYLK, MYOT, MYOZ2, MYPN, NEBL, NEXN, NOTCH1, NOTCH3, NPPA, NRAS, PCSK9, PDHA1, PHKA1, PITX2, PLOD1, PMM2, PRDM16, PRKG1, PSEN1, PSEN2, RANGRF, SCN1B, SCN2B, SCN3B, SCN4B, SGCA, SGCB, SGCD, SHOC2, SKI, SLC22A5, SLC25A4, SLC2A10, SLMAP, SMAD1, SMAD3, SMAD4, SMAD9, SNTA1, SPRED1, SURF1, TBX1, TBX20, TBX5, TCAP, TGFB2, TGFB3, TMEM70, TMPO, TRDN, TRIM63, TRPM4, TSFM, TNXRD2, VCL, ANK3, CTF1, KLF10, MYLK2, OBSL1, and PDLIM3

CardioGene is comprised of 4 different NGS panels to ensure detailed coverage of the genes responsible for causing Inherited Cardiac Conditions (ICCs). It is performed on a blood sample, ideally on someone who is affected with an ICC.
Depending on the particular type of ICC found in the patient or their family, the following genes may be tested: HCM, ARVC/DCM, IAS, ICD/SD. The appropriate NGS panel will be discussed prior to testing.

What will the test show?

There are 3 possible outcomes:

  1. A mutation is identified in one of the genes known to cause ICC. Predictive genetic testing is possible for unaffected family members.
  2. A genetic variation is identified, but the significance of whether or not it is disease-­causing is not known (called a Variant of Unknown Significance (VUS). Family studies will be suggested, where possible, to see who else carries the faulty gene and to try to determine the significance of the genetic variation. Predictive genetic testing may not be possible for unaffected family members.
  3. No mutation is identified. It is possible that a mutation exists in another ICC gene that is not included in the present panel. Further testing may be possible in the future with developments in research. In this instance, predictive genetic testing is presently not possible for other family members.

If a mutation is not identified, this does not mean that your ICC is not genetic, just that we have been unable to currently determine a genetic cause. Future genetic testing may be available depending on your condition. What does it mean if I have a mutation? If the test identifies a mutation in your saliva sample, this means we have identified the cause of your/ your family’s ICC and that unaffected family members may benefit from a genetic test. It is unlikely that your clinical management will change upon the identification of a specific faulty gene; however for a few genes this may be the case.

Presently, it is not possible to predict the clinical course of your ICC based on a particular gene or mutation as there generally is not a consistent correlation between the two. The specific gene identified will inform us how your ICC is inherited and will help us in determining which of your family members require clinical screening and who would benefit from genetic testing.

How does the test work?

As the detection rate is less than 100%*, testing is usually only performed on individuals who are affected with the condition. This is because the absence of a mutation in someone who is not affected would not be informative.

The test is performed on a blood sample and takes x days to obtain a result. Gene coverage is almost 100% for the most common genes for each ICC. This figure does vary between patients and is also affected by sample processing.
*current detection rates vary depending on the ICC

Screening

When an ICC has been identified in the family, it is advisable that all first degree family members undergo clinical screening by a cardiologist. This is regardless of whether a genetic mutation can be identified in the family and should also taken place even in the absence of symptoms. The intervals and timings of screening should be discussed with your cardiologist and will be dependent on age and type of ICC.

Inherited Cardiac Conditions (ICC)

Inherited Cardiac Conditions, or ICC, are a group of heart conditions that are due to a genetic cause. The most common types of inherited cardiac conditions are the cardiomyopathies and the inherited arrhythmia syndromes (IAS).

How are ICCs inherited?

Genes come in pairs; one copy is inherited from our mother and one copy from our father. The majority of ICCs are inherited in an autosomal dominant (AD) manner, which means that there is a 1 in 2, or 50% chance, that an affected parent will pass the faulty gene onto each of their children. However, there are some rarer types of heart conditions that are inherited in an X-­linked pattern, where boys are more commonly affected than girls (see diagram).

Genetic Counselling

At GeneHealth UK we offer genetic counselling to assist you prior to genetic testing. Our counsellors will provide you with all the information you need to make a decision and will help explain the process of genetic testing to you. Our counsellors will also be available after your test to discuss the results and your options.

Pricing

The price list for CardioGene is available here. All services include pre and post-test genetic counselling.

If you would like further information and advice on genetic testing for cardiovascular disease please contact our team today.

Fill out your details and one of our friendly staff will call you back to book your appointment with a Genetic Counsellor.
 

or if your prefer, call 0800 331 7177 to book now

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