FAQs

What are 5 genetic diseases?

There are many genetic diseases but the 5 most common are:

Breast Cancer:

In many cases it has been found that breast cancer is inherited, it is caused by the mutations in genes such as BRCA1 and BRCA2. This genetic mutation increases the risk of cancer but mostly breast and ovarian cancer.

Hereditary Hemochromatosis:

This is a condition characterized by excessive absorption of dietary iron, leading to iron overload in various organs. It is usually caused by mutations in the HFE gene.

Familial Hypercholesterolemia:

Familial hypercholesterolemia is an inherited condition that leads to high levels of low-density lipoprotein (LDL) cholesterol in the blood, increasing the risk of early heart disease. It is often caused by mutations in genes such as LDLR (low-density lipoprotein receptor) or PCSK9 (proprotein convertase subtilisin/kexin type 9).

Polycystic Kidney Disease (PKD):

PKD is a genetic disorder characterized by the growth of numerous cysts in the kidneys, leading to kidney enlargement and impairment of kidney function. Autosomal dominant polycystic kidney disease (ADPKD) is the most common form and is caused by mutations in genes such as PKD1 and PKD2.

Neurofibromatosis Type 1 (NF1):

NF1 is a genetic disorder that causes tumors to form on nerve tissue. It can lead to a range of symptoms, including skin abnormalities, bone deformities, and neurological complications. NF1 is caused by mutations in the NF1 gene.

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