Family Planning

Hereditary Fructose Intolerance

Hereditary fructose intolerance is an autosomal recessive disease, caused by the absence of an enzyme: aldolase B. It negatively affects one’s ability to digest fructose (simple sugar).

Beta Thalassemia

Beta thalassemia is an inherited blood disorder characterized by reduced production of hemoglobin due to the mutation in HBB gene, causing a lack of oxygen in the body.

Phenylketonuria

Phenylketonuria (PKU) is a rare genetic disorder caused by the deficiency of the PAH enzyme, leading to the accumulation of phenylalanine in the body.

Achromatopsia

Achromatopsia impairs color vision; complete form lacks color distinction, while incomplete form has limited discrimination. CNGA3 and CNGB3 gene mutations prevalent in majority of cases.

Hemophilia

Hemophilia is an inherited bleeding disorder, linked to chromosome X, that slows the blood clotting process (due to the partial or total deficiency of a clotting factor).

Galactosemia

Galactosemia is a group of inherited autosomal recessive disorders, resulting from a defect of galactose metabolism (a sugar contained in milk). Symptoms and severity depend on what gene is affected.

Wilson Disease

Wilson disease is a monogenic disorder affecting copper metabolism. It is caused by mutations in the ATP7B gene. Early diagnosis is essential to prevent hepatic and systemic complications.

Sickle Cell Anemia

Sickle cell anemia is a common autosomal recessive disorder caused by HBB gene mutations. It leads to sickle-shaped red blood cells, blocking capillaries and causing varied clinical symptoms.

Pendred Syndrome

Pendred syndrome is an autosomal recessive disorder usually characterized by hearing loss in both ears and enlargement of the thyroid gland, but with its normal function (goiter).

Usher Syndrome Type I, II and III

Usher syndrome is a rare genetic disease, affecting both hearing and vision. There are three types: I, II, and III, with different severity and the age when symptoms appear.

Leucinosis (Maple Syrupe Urine Disease)

Leucinosis is an inborn error of metabolism. The body is unable to process certain amino acids (leucine, isoleucine and valine), causing a build-up of substances in the urine and blood.

Obstructive Azoospermia

OA can be a result of congenital bilateral absence of the vas deferens (CBAVD) associated with CFTR gene mutations. It is characterized by the absence of spermatozoa in the ejaculate.