Family Planning

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.

Primary Hyperoxaluria

Primary hyperoxaluria is an autosomal recessive disorder causing excessive oxalate production, leading to kidney stones. Treatable if detected early (vitamin B6, lithotripsy, specialized treatment).

Canavan Disease

Canavan disease is a rare hereditary disorder caused by mutations in ASPA gene. It belongs to the group of leukodystrophies and is associated with the defects in nerve signaling.

Fanconi Anemia

Fanconi anemia is a rare autosomal recessive disorder that is caused by inactivation of one of at least 22 genes. Products of those genes have important role in DNA reparation during DNA replication.

Cystic Fibrosis

Cystic fibrosis: an inherited disorder causing excessive mucus production due to CFTR gene mutations, affecting multiple systems. Treatment includes airway clearance, medications, and surgery.

Nonsyndromic Hearing Loss and Deafness

Nonsyndromic hearing loss (NSHL) is a partial or total loss of hearing that is not associated with other signs and symptoms. It’s important to provide screening for hearing loss for children early.