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.
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.
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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.
The Cauliflower IgG test is a diagnostic tool used to assess potential sensitization or intolerance to cauliflower. It involves:
- Specimen Collection: A blood sample is collected in a red-top tube, centrifuged, and serum is refrigerated or frozen for transport.
- Methodology: Uses enzyme immunoassay (EIA) to measure IgG levels, ensuring accuracy.
- Clinical Utility: Indicates sensitization but not necessarily allergy; should be interpreted by knowledgeable physicians.
- Interpretation: Results in mcg/mL; positive results suggest potential intolerance.
- Considerations: Not FDA-approved; results should be discussed with healthcare providers for appropriate action.
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.
The lowest price from the last 30 days: £34
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