What is it?

Our Genetic Full Cardiac Risk Test is a deep sequencing screen that identifies over 100 different genetic variants responsible for inherited cardiac conditions. This cost-effective test provides a thorough analysis of your genetic profile, focusing on genes such as ABCC9, ABCG5, ABCG8, ACTA1, ACTA2, ACTC1, ACTN2, AKAP9, ALMS1, ANK2, ANKRD1, APOA4, APOA5, APOB, APOC2, APOE, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALR3, CASQ2, CAV3, CB2, CBL, CETP, COL3A1, COL5A1, COL5A2, COX15, CREB3L3, CRELD1, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, EFEMP2, ELN, EMD, EYA4, FBN1, FBN2, FHL1, FHL2, FKRP, FKTN, FXN, GAA, GATA4, GATAD1, GCKR, GJA5, GLA, GPD1L, GPIHBP1, HADHA, HCN4, HRAS, HSPB8, ILK, JAG1, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNJ2, KCNJ5, KCNQ1, KLF10, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LMF1, LMNA, LPL, LTBP2, MAP2K1, MAP2K2, MIB1, MURC, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYO6, MYOZ2, MYPN, NEXN, NKX2-5, NODAL, NOTCH1, NPPA, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PRKAR1A, PTPN11, RAF1, RANGRF, RBM20, RYR1, RYR2, SALL4, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SEPN1, SGCB, SGCD, SHOC2, SLC25A4, SLC2A10, SMAD3, SMAD4, SNTA1, SOS1, SREBF2, TAZ, TBX20, TBX3, TBX5, TCF7L2, TGFB2, TGFB3, TGFB1, TGFB2R, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, TXNRD2, VCL, ZBTB17, ZHX3, ZIC3.

Lipid Metabolism and Cholesterol Regulation:

1. ABCC9: Involved in the regulation of ion channels; mutations can affect insulin secretion and cardiovascular function.

2. ABCG5: Plays a role in the excretion of sterols; mutations can lead to sitosterolemia, a condition with high plant sterol levels.

3. ABCG8: Works with ABCG5 in sterol excretion; mutations also result in sitosterolemia.

4. APOA4: Encodes Apolipoprotein A-IV, involved in lipid metabolism and cholesterol transport.

5. APOA5: Influences plasma triglyceride levels, with mutations linked to hypertriglyceridemia.

6. APOB: Major component of LDL cholesterol; mutations can cause familial hypercholesterolemia.

7. APOC2: Encodes Apolipoprotein C-II, essential for triglyceride metabolism; deficiencies can lead to hyperlipoproteinemia.

8. APOE: Involved in lipid transport and cholesterol metabolism; variants affect Alzheimer’s risk and cardiovascular disease.

9. CETP: Influences the exchange of cholesterol between lipoproteins, affecting HDL and LDL levels.

10. GCKR: Regulates glucose metabolism and influences triglyceride levels.

11. GPIHBP1: Affects lipoprotein lipase activity; mutations can cause severe hypertriglyceridemia.

12. LMF1: Involved in the maturation of lipoprotein lipase; mutations can lead to hypertriglyceridemia.

13. LPL: Encodes lipoprotein lipase, critical for breaking down triglycerides in the blood.

Muscle and Cardiomyopathies:

14. ACTA1: Encodes alpha-skeletal actin; mutations can cause congenital myopathies.

15. ACTA2: Encodes alpha-smooth muscle actin; associated with vascular disorders like aortic aneurysms.

16. ACTC1: Encodes cardiac actin; mutations can lead to hypertrophic cardiomyopathy.

17. ACTN2: Involved in the structural integrity of muscle fibers; mutations can cause cardiomyopathy.

18. AKAP9: Anchors protein kinase A to certain cellular compartments; mutations linked to cardiac arrhythmias.

19. ALMS1: Associated with Alström syndrome, affecting multiple organ systems including the heart.

20. ANK2: Encodes ankyrin-B, important for maintaining cardiac function; mutations can cause arrhythmias.

21. ANKRD1: Involved in muscle function and stress response; mutations linked to cardiomyopathies.

22. BAG3: A chaperone protein that supports muscle integrity; mutations can cause myofibrillar myopathy and cardiomyopathy.

23. CALM1: Encodes calmodulin, crucial for calcium signaling; mutations linked to arrhythmias and cardiomyopathy.

24. CASQ2: Encodes calsequestrin, important in calcium storage in muscle cells; mutations can cause arrhythmias.

25. CAV3: Encodes caveolin-3, involved in muscle cell membrane structure; mutations can lead to muscular dystrophy and cardiomyopathy.

26. CSRP3: Encodes a muscle LIM protein, important in muscle development; mutations can cause hypertrophic cardiomyopathy.

27. DMD: Encodes dystrophin, a key muscle protein; mutations cause Duchenne and Becker muscular dystrophies.

28. DES: Encodes desmin, important for muscle fiber structure; mutations can cause desmin-related myopathy.

29. LMNA: Encodes lamin A/C, structural proteins in the cell nucleus; mutations cause muscular dystrophy and cardiomyopathy.

30. MYBPC3: Encodes myosin-binding protein C, involved in muscle contraction; mutations are a common cause of hypertrophic cardiomyopathy.

31. MYH6: Encodes alpha-myosin heavy chain, important for cardiac muscle function; mutations can cause cardiomyopathies.

32. MYH7: Encodes beta-myosin heavy chain, a critical protein for muscle contraction; mutations linked to hypertrophic and dilated cardiomyopathy.

33. MYL2: Encodes myosin light chain 2, involved in heart muscle contraction; mutations can cause cardiomyopathy.

34. MYL3: Encodes myosin light chain 3, involved in cardiac muscle contraction; mutations associated with hypertrophic cardiomyopathy.

35. TTN: Encodes titin, a giant protein crucial for muscle elasticity and contraction; mutations are a common cause of dilated cardiomyopathy.

Signaling Pathways and Receptor Function:

36. AKAP9: Anchors protein kinase A to specific locations in the cell; associated with long QT syndrome, a heart rhythm disorder.

37. ANK2: Encodes ankyrin-B, a protein that stabilizes ion channels in the heart; mutations cause cardiac arrhythmias.

38. BRAF: Encodes a kinase involved in cell signaling; mutations are common in various cancers.

39. CACNA1C: Encodes a calcium channel subunit; mutations linked to cardiac arrhythmias like Timothy syndrome.

40. CACNB2: Encodes a beta subunit of voltage-gated calcium channels; involved in cardiac function and arrhythmias.

41. CALR3: Involved in calcium binding and regulation in the heart; mutations can cause familial hypertrophic cardiomyopathy.

42. CASQ2: Encodes calsequestrin 2, involved in calcium storage in muscle cells; mutations linked to arrhythmogenic right ventricular cardiomyopathy.

43. GATA4: A transcription factor important in heart development; mutations cause congenital heart defects.

44. HRAS: Part of the RAS/MAPK signaling pathway, involved in cell growth; mutations are linked to developmental disorders and cancer.

45. KCND3: Encodes a potassium channel subunit; mutations linked to cardiac arrhythmias.

46. KCNQ1: Encodes a potassium channel involved in heart rhythm; mutations cause long QT syndrome.

Structural Proteins and Connective Tissue:

47. COL3A1: Encodes collagen type III, important in connective tissue structure; mutations cause Ehlers-Danlos syndrome, affecting skin, joints, and blood vessels.

48. COL5A1: Encodes collagen type V, crucial for connective tissue integrity; associated with Ehlers-Danlos syndrome.

49. COL5A2: Similar to COL5A1, involved in connective tissue; also associated with Ehlers-Danlos syndrome.

50. DES: Encodes desmin, a muscle-specific protein; mutations cause desmin-related myopathy.

51. ELN: Encodes elastin, essential for elastic fibers in connective tissue; mutations can cause supravalvular aortic stenosis.

52. FBN1: Encodes fibrillin-1, a protein essential for connective tissue; mutations cause Marfan syndrome.

53. FBN2: Similar to FBN1, involved in connective tissue integrity; associated with congenital contractural arachnodactyly.

54. LMNA: Encodes lamin A/C, involved in nuclear envelope structure; mutations cause a variety of disorders including muscular dystrophy and cardiomyopathy.

Miscellaneous:

55. ADORA2A: Encodes the adenosine A2A receptor, involved in sleep and neurological processes; associated with caffeine sensitivity.

56. CBL: Encodes an E3 ubiquitin ligase, involved in protein degradation; mutations linked to certain cancers.

57. DPP6: Encodes a protein involved in potassium channel regulation; mutations linked to arrhythmias.

58. HSPB8: Encodes a small heat shock protein; mutations cause distal hereditary motor neuropathy.

59. ILK: Encodes integrin-linked kinase, involved in cell adhesion and signaling; mutations linked to heart and skeletal muscle diseases.

60. JAG1: Encodes a ligand in the Notch signaling pathway; mutations cause Alagille syndrome, affecting the liver, heart, and other organs.

61. LMNA: Encodes lamin A/C, a protein in the nuclear envelope; mutations cause a range of muscular dystrophies and cardiomyopathies.

62. MAP2K1: Encodes a kinase involved in the MAPK signaling pathway; mutations linked to Noonan syndrome and other developmental disorders.

63. NOTCH1: Encodes a receptor in the Notch signaling pathway, critical for cell differentiation; mutations linked to congenital heart disease and cancer.

64. RYR2: Encodes a calcium release channel in the heart; mutations linked to arrhythmogenic right ventricular dysplasia and catecholaminergic polymorphic ventricular tachycardia.

65. SCN5A: Encodes a sodium channel subunit; mutations cause long QT syndrome and Brugada syndrome, leading to arrhythmias.

Benefits

The Process

Why Choose London Blood Tests?

Ideal For

How to Get Started