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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.

Long QT Syndrome

Long QT syndrome (LQTS) represents a vast family of cardiac disorders of the heart’s electrical system. It is characterized by changes in the ECG (prolonged QT intervals and T wave abnormalities).

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.

Congenital Hyperinsulinism

Congenital hyperinsulinism is a disease where insulin (hormone that helps control blood sugar) in secreted in abnormally high levels, it causes frequent episodes of low blood sugar, even after eating.

Polycystic Kidney Disease

This autosomal recessive disease is caused by mutations in the PKHD1 gene and affects mainly the kidneys, but other organs can be also affected. Present cysts interfere with kidneys proper function.