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CFTR Gene Analysis

CFTR Gene Analysis

The CFTR Gene Analysis is a vital genetic test aimed at identifying mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, essential for chloride channel function across cell membranes. Mutations in this gene can lead to cystic fibrosis (CF), impacting the respiratory, digestive, and reproductive systems. This test is crucial for diagnosing CF and related conditions, especially in individuals with atypical presentations or low detection rates in targeted variant analysis. Utilizing next-generation sequencing (NGS), the test comprehensively analyzes the CFTR gene, detecting over 98% of sequence variants, including single nucleotide variants, copy number variants, deletions, insertions, duplications, and structural rearrangements. Clinically, it aids in diagnosis, prognosis, treatment planning, recurrence risk assessment, familial screening, and genetic counseling. The test can be performed on various specimens, with a typical turnaround time of 10 to 21 days. Despite its sensitivity, certain regions may pose challenges, necessitating potential reanalysis as scientific understanding evolves.

Price of test:£719

The lowest price from the last 30 days: £719

Awaiting result:

8 days

Collect material:

Blood

Prepare:

Learn more

Purpose of the test

The CFTR Gene Analysis is a vital genetic test for detecting mutations in the CFTR gene, crucial for diagnosing cystic fibrosis. Key objectives include:

- Diagnosis: Confirm CF by identifying pathogenic variants.
- Prognosis: Provide insights into disease severity.
- Clinical Management: Tailor treatment plans, including CFTR potentiator therapy.
- Recurrence Risk Assessment: Evaluate the risk of passing mutations to offspring.
- Familial Screening: Identify carriers or affected family members.
- Genetic Counseling: Offer informed guidance on health implications.

This comprehensive test aids in effective clinical decision-making and personalized care.

Who Should Get Tested

The CFTR Gene Analysis is essential for diagnosing cystic fibrosis and related conditions. It is particularly beneficial for:

- Individuals with a clinical diagnosis of CF.
- Those with atypical presentations, like congenital bilateral absence of the vas deferens or pancreatitis.
- People with low detection rates by targeted variant analysis due to their ancestral background.

The test uses next-generation sequencing to identify various genetic variants, aiding in diagnosis, prognosis, and clinical management. It also supports recurrence risk assessment, familial screening, and genetic counseling, ensuring comprehensive care and informed decision-making.

Blood Test Preparation Guidelines

Time of day

It is recommended to schedule your appointment for blood tests in the morning hours between 7:00-10:00.

Fasting

It is recommended to fast for approximately 12 hours before blood sampling. The last meal of the previous day should ideally be consumed around 6:00 p.m. On the day before the test, avoid heavy and fatty meals as well as alcohol.

Stay hydrated

Drinking water prior to testing can help with sample collection.

Other factors

Tests should not be performed after a sleepless night or intense physical activity. It is recommended to avoid exercise and stress immediately before blood collection and to not smoke. A short rest is recommended.

Medications and supplements:

Blood samples should be collected before the morning dose. Some drugs can interfere with test results. Consult with your doctor whether you can delay your dose because of lab tests.

Biotin supplements:

High doses of biotin supplements can affect test results, causing false elevation or reduction. It's recommended to avoid taking biotin for at least 72 hours before blood collection. If you are taking biotin, inform the personnel collecting the blood so that they can provide specific instructions.

Interpreting Test Results

Understanding test results from the CFTR Gene Analysis is essential for interpreting the implications of detected mutations. Here's a brief overview:

- Diagnosis: Confirms cystic fibrosis by identifying pathogenic variants.
- Prognosis: Offers insights into disease severity and potential complications.
- Clinical Management: Guides treatment plans, including CFTR potentiator therapy.
- Recurrence Risk: Assesses the likelihood of passing mutations to offspring.
- Familial Screening: Identifies carriers or affected family members.
- Genetic Counseling: Provides crucial information for informed health decisions.

Understanding these results empowers patients and healthcare providers to make informed choices.

Price of test:£719

The lowest price from the last 30 days: £719

AI-Powered Insights and Expert Validation

Advanced AI Interpretation

Diagu's AI system represents a breakthrough in medical test analysis, employing state-of-the-art algorithms meticulously trained on a vast spectrum of authoritative medical literature and data. This system intricately analyses laboratory test results, extracting nuanced insights that might elude conventional methods. Our AI delves into complex interrelations between various health markers, offering a comprehensive understanding that supports accurate diagnosis and effective treatment planning. The foundation of our AI's analytical prowess lies in its extensive training, encompassing data from globally recognised medical journals, trusted healthcare databases, and breakthrough scientific studies. This ensures that every analysis is grounded in the latest and most comprehensive medical knowledge.

Expert Doctor Confirmation

While our AI provides deep analytical insights, the human touch remains indispensable. Every AI-generated interpretation is meticulously reviewed by experienced medical professionals, ensuring a harmonious blend of advanced technology and expert clinical judgment. This dual-layer approach guarantees that the insights provided are not only technologically sophisticated but also clinically relevant. Our medical experts ensure that the AI's interpretations align with current medical standards and practices, adding a layer of validation that only seasoned healthcare professionals can provide. This process reinforces the reliability of the test results, offering peace of mind to both patients and healthcare providers.

Language Model and Trusted Sources

At the core of Diagu's AI system is an advanced language model, engineered to transform complex medical data into clear, comprehensible, and informative descriptions. This model is adept at articulating detailed test analyses in a way that is accessible to both healthcare professionals and patients. The model's development involved the meticulous processing of high-quality sources, including reputable medical websites, renowned medical textbooks, and peer-reviewed research papers. This ensures that the language used in test descriptions is not only accurate and informative but also up-to-date with the latest medical findings and trends. By leveraging this rich tapestry of trusted sources, our AI system provides a deeper understanding of each test, fostering informed decision-making and enhanced patient care.

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