SCIENTIFIC BACKGROUND

ACTA2, ACTC1, ACVR2B, AFF4, BMPR2, CAD, CFAP53, CDK13, CELSR1, CELSR2, CELSR3, CHD4, CHD7, CITED2, CREBBP, CRELD1, DNAH11, DNAH5, DNAH6, DNAI1, DTNA, EHMT1, ELN, EVC, EVC2, FBN1, FLNA, FOXC1, FOXH1, GANAB, GATA4, GATA5, GATA6, GDF1, GPC3, HAND1, HAND2, HRAS, JAG1, KDM5B, KMT2D, MED13L, MMP21, MYH11, MYH6, MYH7, NIPBL, NKX2-5, NKX2-6, NME7, NODAL, NOTCH1, NOTCH2, NR2F2, PITX2, PKD1L1, PLD1, POGZ, PRDM6, PRKD1, RABGAP1L, RBFOX2, RBM10, SALL4, SEMA3D, SEMA3E, SMAD6, TAB2, TBX1, TBX20, TBX5, TFAP2B, TGFBR1, TGFBR2, TLL1, TMEM260, TPM1, ZEB2, ZFPM2, ZIC3

Category:

Scientific Background

Congenital heart defects are present from birth and affect the heart’s structure and efficiency to function. They are a significant factor for morbidity and mortality as the heart does not have regeneration abilities.

 

Who is this test for?

Genetic testing can identify known pathogenic gene mutations and thus help the doctor confirm a diagnosis and further adjust the management plan based on a more accurate prognostic assessment. The doctor can also provide important information to the patient for family planning and recurrence risk, as well as suggest genetic testing to other close family members when applicable to evaluate their risk.

 

References

  • Suluba, E., Shuwei, L., Xia, Q., & Mwanga, A. (2020). Congenital heart diseases: genetics, non-inherited risk factors, and signaling pathways. Egyptian Journal of Medical Human Genetics, 21(1). https://doi.org/10.1186/s43042-020-0050-1
  • De Backer, J., Bondue, A., Budts, W., Evangelista, A., Gallego, P., Jondeau, G., Loeys, B., Peña, M. L., Teixido-Tura, G., Van De Laar, I., Verstraeten, A., & Roos Hesselink, J. (2019). Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics. European Journal of Preventive Cardiology, 27(13), 1423–1435. https://doi.org/10.1177/2047487319854552

 

How many genes are tested in this panel?

80 genes

 

What diseases are associated with the genes tested in this panel?

  • Isolated and Syndromal Congenital Heart Defects
  • Heterotaxy
  • Alagille Syndrome
  • Atrial Septal defect

GENES

ACTA2, ACTC1, ACVR2B, AFF4, BMPR2, CAD, CFAP53, CDK13, CELSR1, CELSR2, CELSR3, CHD4, CHD7, CITED2, CREBBP, CRELD1, DNAH11, DNAH5, DNAH6, DNAI1, DTNA, EHMT1, ELN, EVC, EVC2, FBN1, FLNA, FOXC1, FOXH1, GANAB, GATA4, GATA5, GATA6, GDF1, GPC3, HAND1, HAND2, HRAS, JAG1, KDM5B, KMT2D, MED13L, MMP21, MYH11, MYH6, MYH7, NIPBL, NKX2-5, NKX2-6, NME7, NODAL, NOTCH1, NOTCH2, NR2F2, PITX2, PKD1L1, PLD1, POGZ, PRDM6, PRKD1, RABGAP1L, RBFOX2, RBM10, SALL4, SEMA3D, SEMA3E, SMAD6, TAB2, TBX1, TBX20, TBX5, TFAP2B, TGFBR1, TGFBR2, TLL1, TMEM260, TPM1, ZEB2, ZFPM2, ZIC3
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