Cystic Fibrosis (CF)
Cystic Fibrosis (CF) is a challenging genetic disorder that affects the respiratory and digestive systems. As the first genetic condition to be targeted by pan-ethnic universal carrier screening, CF has become a pivotal focus in preventive medicine. The American College of Medical Genetics (ACMG) recommends a core panel of 23 disease-causing variants for comprehensive carrier screening, ensuring early detection and informed decision-making for individuals with no family history of CF. This screening is crucial for both individuals and families to understand their risk and take proactive steps.
Cystic Fibrosis is caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, which is responsible for producing the CFTR protein. This protein helps regulate the movement of chloride ions across cell membranes, playing a critical role in the production of sweat, digestive fluids, and mucus. When the CFTR gene is mutated, it leads to the production of a defective protein that causes mucus to become thick and sticky.
The thick mucus accumulates in the lungs and digestive tract, leading to severe respiratory and digestive issues. In the lungs, the sticky mucus obstructs airways, leading to chronic infections, persistent cough, and progressive lung damage. In the digestive system, the mucus blocks the enzymes needed to digest food, which can cause malnutrition and poor growth.
CF is inherited in an autosomal recessive pattern, meaning that an individual must inherit two defective copies of the CFTR gene (one from each parent) to have the disease. If a person has only one mutated gene, they are considered a carrier but will not develop CF themselves.
Clinical Utility
Early Detection and Management: CF screening is a crucial component of newborn screening programs worldwide. Early detection allows for prompt intervention and management, which can significantly improve the quality of life and health outcomes for affected individuals. Newborns identified through screening can benefit from early initiation of treatments, including pancreatic enzyme replacement, respiratory therapies, and nutritional support.
Carrier Identification: Carrier screening helps identify individuals who carry one copy of the mutated CFTR gene. This is particularly useful for couples planning to start a family, as knowing their carrier status can inform reproductive choices and prenatal testing. Carrier screening can also guide family planning and provide valuable information for family members who may be at risk.
Population Screening: Many countries offer CF carrier screening as part of population-wide screening programs. This proactive approach helps identify carriers within the general population, leading to early counseling and interventions.
When to Consider Testing
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Newborn Screening: CF testing is routinely performed as part of newborn screening programs in many countries. This early screening helps identify affected infants who can then receive timely medical care.
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Family History: If there is a known family history of cystic fibrosis, it is advisable to undergo carrier screening. This is particularly important for prospective parents who may be carriers themselves.
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Reproductive Planning: Couples planning to have children can benefit from CF carrier screening to assess their risk of having a child with CF. This information can guide decisions regarding conception and prenatal testing.
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Symptoms: Individuals presenting with symptoms such as chronic respiratory infections, persistent cough, digestive problems, or failure to thrive should consider CF testing. These symptoms may indicate the presence of CF or the need for further evaluation.
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Population Screening Programs: Participation in population screening programs can help identify carriers and affected individuals early, leading to better management and informed family planning.
MapmyGenome Offerings
At MapmyGenome, we offer comprehensive CF screening services that are designed to provide accurate and actionable information for patients and healthcare providers. Our offerings include:
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Newborn Screening: We provide robust newborn screening tests for cystic fibrosis to ensure early detection and management of the condition.
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Carrier Screening: Our carrier screening tests identify individuals who carry mutations in the CFTR gene. This service is ideal for prospective parents and individuals with a family history of CF.
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Genetic Counseling: We offer genetic counseling services to help interpret screening results and guide patients through the implications for their health and family planning.
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Comprehensive Reports: Our detailed reports provide clear information about CF risk, carrier status, and potential next steps, helping patients and doctors make informed decisions.
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Interactive Tools: We provide interactive tools and resources to help patients understand their screening results and explore their options.
Test specifications
| Technique | Variant types | TAT | Sample Requirements |
|---|---|---|---|
| Sanger sequencing | Mutation | 3 - 4 weeks | 2 ml EDTA Blood / 2 ug DNA |