G004am

Cystic Fibrosis (18 mutations)

Method:

Competitive allele specific PCR

Full name:

Cystic Fibrosis (18 mutations)

Sample Type:

Sample quantity:

Sample container:

15-18 week amniotic fluid

20 ml

Biomaterial container

Cystic Fibrosis (CF), also known as Mucoviscidosis, is a genetic disease that mainly affects the respiratory and digestive systems. This disease is caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene. The CFTR protein is a protein that helps salt and water move between cells properly. Mutations disrupt the function of this protein, causing mucus to become thicker and stickier.

18 mutations refer to several mutations present in the CFTR gene. The CFTR gene can have various mutations, but the most common is the Delta F508 mutation. Mutations can cause different clinical effects.

Symptoms in the Respiratory System:
- Chronic cough.
- Obstruction of airways due to thick mucus.
- Frequent respiratory infections, such as bronchitis or pneumonia.
- Shortness of breath and difficulty breathing.
- Chest pains.
Symptoms in the Digestive System:
- Difficulty digesting food due to the inability of the pancreas to properly secrete its enzymes.
- Oily or heavy stools.
- Symptoms similar to irritable bowel syndrome.
- Difficulty gaining weight and developmental delay.
- Abdominal pain and bloating.
Other Symptoms:
- Salt-loving skin (a lot of salt comes out with tears and sweat).
- Nasal polyps and sinus infections.
- Liver problems.
- Infertility in men (inability to pass sperm normally).

ID:

G004am

Cystic Fibrosis (18 mutations)

Competitive allele specific PCR

Cystic Fibrosis (18 mutations)