Rare Diseases

According to definitions in Europe and other developed countries, rare diseases are those that occur in 1 in 2,000 people or less and are mostly progressive, metabolic, chronic, and sometimes life-threatening.

• Approximately 8,000 rare diseases have been identified in the literature, and 80% of these are genetically inherited.

• About 50% of patients are children.

• 30% of children with a rare disease do not reach the age of 5, primarily because 95% of rare diseases have no available treatment.

• In Turkey, rare diseases are observed in 1 out of every 16 individuals; approximately 5 million people in Turkey and around 350 million people worldwide are affected by a rare disease.

• Each disease has unique characteristics, requiring specialized care, treatments, medications, consumables, special nutrition, and medical devices.

• Although these diseases are rare, their impact on the patient, family, and society is significant.

(Source: Nadir Hastalıklar Ağı)

Neurofibromatosis Mutation Panel

Neurofibromatosis (NF) is a group of genetic disorders that cause tumor growth along various nerves and can affect the development of non-neural tissues such as bone and skin. NF tumors can develop anywhere in the body and may also lead to developmental abnormalities.

• NF1 (Neurofibromatosis Type 1): Also known as von Recklinghausen NF or peripheral NF, occurs in 1 in 4,000 births. Characterized by Café-au-lait spots on the skin and subcutaneous neurofibromas. Bone enlargement, deformities, and scoliosis may also occur. Rarely, tumors may develop in cranial nerves or the spinal cord.

• NF2 (Neurofibromatosis Type 2): Also known as Bilateral Acoustic NF (BAN), occurs in 1 in 40,000 births. Characterized by multiple tumors in cranial and spinal nerves, as well as other lesions in the brain and spinal cord. Tumors affecting both auditory nerves are a hallmark, with hearing loss usually appearing in the first or second decade of life.

Dystrophin Gene Mutation Panel

Duchenne Muscular Dystrophy (DMD) is the most common muscular disorder caused by deletions in the dystrophin gene on the X chromosome, affecting 1 in 3,500 male children. This disease results in the absence of a protein essential for muscle function.

• Without this protein, muscles progressively weaken, and muscle tissue is replaced by fat.

• Diagnosis usually occurs between ages 2-5. Some children may lag in growth from birth, while others develop normally initially.

• Weakness begins in hip and shoulder muscles, progressing to abdominal and back muscles, causing characteristic postures while walking.

• By ages 9-11, children often lose the ability to walk independently and begin using wheelchairs. Arm muscles weaken over time, impairing arm function.