Cystic Fibrosis Genetic Test
Cystic Fibrosis Screening in Kenya
Cystic fibrosis is an inherited disorder where mucus, sweat and digestive juices are sticky and thick instead of being slippery and thin. Due to their thick, sticky nature, these secretions are unable to act as lubricants and end up instead blocking ducts, passageways and tubes. The cystic fibrosis genetic test determines if one is a carrier of the defective gene that causes cystic fibrosis. This test also diagnoses cystic fibrosis.
Cystic Fibrosis Symptoms
Very salty testing skin.
Nasal polyps.
Wheezing and shortness of breath.
Persistent coughing with mucus.
Poor growth and low weight despite a good appetite.
Infertility in males.
Liver problems.
Frequent and severe constipation that may lead to rectal prolapse.
Bulky, greasy stool.
Clubbing or enlargement of the toes and fingertips.
Intestinal blockage, particularly in newborns (meconium ileus).
Inheritance Pattern of Cystic Fibrosis
Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Cystic fibrosis is inherited in an autosomal recessive manner. This means that children can get the disease if they inherit one copy of the defective gene from each parent. Having only one gene means that one will not have the disease but will be a carrier and can pass the gene to their own children.
Who should Get Tested?
Cystic Fibrosis screening is recommended for the following people:
Anyone with the signs and symptoms above.
Any individual or couple going through assisted reproduction, including IVF.
Family or personal history of Cystic Fibrosis genetics and inheritance.
People with a family history of a genetic mutation.
High-risk population groups for specific diseases.
Couples who are already pregnant and want to know whether their child has a risk of having a genetic disease.
Any individual wishing to know more about their genetic background.
Sperm and oocyte donors, and recipients of sperm or oocyte donation.
Required Samples
A simple cheek swab sample is needed.
Turnaround Time
Results come out in 2-3 weeks