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CFTR Gene Analysis

Chromogranin A (CgA) is a vital protein used in diagnosing and monitoring neuroendocrine tumors. Secreted by neuroendocrine cells, CgA is part of the granin family, playing a key role in hormone and neurotransmitter regulation. It is found in secretory granules, aiding in the controlled release of signaling molecules essential for physiological functions. Clinically, CgA serves as a diagnostic marker for neuroendocrine neoplasms like carcinoids and pheochromocytomas, and helps detect residual or recurrent disease. Elevated CgA levels often indicate tumor progression, especially in gastroenteropancreatic neuroendocrine tumors. However, interpretation requires caution due to potential false positives from conditions like gastrointestinal disorders or proton pump inhibitor therapy. Accurate results depend on patient preparation, including fasting and discontinuing PPIs. While not a standalone test, CgA provides crucial insights when combined with clinical symptoms and other diagnostics, aiding in effective management of neuroendocrine tumors.

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Price of test:£626

The lowest price from the last 30 days: £626

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Awaiting result:

One day

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Collect material:

Blood

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Prepare:

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Purpose of the test

Chromogranin A (CgA) is vital for diagnosing and monitoring neuroendocrine tumors. This protein, secreted by neuroendocrine cells, aids in hormone and neurotransmitter regulation. Key points include:

- Diagnostic Marker: Useful for identifying neuroendocrine neoplasms like carcinoids and pheochromocytomas.
- Monitoring: Tracks tumor progression in gastroenteropancreatic neuroendocrine tumors.
- Test Interpretation: Elevated levels may indicate various conditions; false positives can occur with proton pump inhibitors.
- Specimen Handling: Requires serum, with specific collection and storage protocols.
- Patient Preparation: Fasting and stopping PPIs enhance test accuracy.

CgA testing, while not standalone, is crucial when combined with clinical assessments.

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
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It is recommended to schedule your appointment for blood tests in the morning hours between 7:00-10:00.
Fasting
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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
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Drinking water prior to testing can help with sample collection.
Other factors
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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:
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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:
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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 for Chromogranin A (CgA) is crucial in diagnosing and monitoring neuroendocrine tumors. Here are key points to consider:

- CgA Levels: Elevated levels may indicate neuroendocrine tumors but can also be seen in other conditions.
- False Positives: Proton pump inhibitors can cause false positives; discontinue use 14 days before testing.
- Hook Effect: Extremely high CgA levels may lead to inaccurate results; retesting might be necessary.
- Clinical Correlation: Always interpret results alongside clinical symptoms and other diagnostic tests.
- Patient Preparation: Fasting and stopping PPIs enhance test accuracy.

Price of test:£626

The lowest price from the last 30 days: £626

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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