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Reports Within:

Parameter Include:

Requisites
Measures

Number of red blood cells in the blood

Identifies

Red blood cell disorders

Measures: Number of red blood cells in the blood

Identifies: Red blood cell disorders

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What is the maximum days the report can be obtained for the test

The maximum days for obtaining the report for the Cystic Fibrosis Full Gene Sequence Analysis Test is 21 days.

What are the prerequisites for the test Cystic Fibrosis Full Gene Sequence Analysis Test

  • Patients must have a clinical diagnosis of cystic fibrosis
  • A signed consent form from the patient or legal guardian
  • A blood or saliva sample for DNA analysis
  • Prior genetic testing results if available

What are the measure values for the test Cystic Fibrosis Full Gene Sequence Analysis Test

  • Gene Mutation Detected: Yes/No
  • Gene Mutation Type: Deletion, Duplication, Insertion, Substitution
  • Gene Mutation Location: Exon/Intron
  • Gene Mutation Effect: Pathogenic, Likely Pathogenic, Uncertain Significance, Likely Benign, Benign
  • Test Sensitivity: %
  • Test Specificity: %
  • Test Accuracy: %

What does this test Cystic Fibrosis Full Gene Sequence Analysis Test identify?

This test, the Cystic Fibrosis Full Gene Sequence Analysis Test, identifies mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene provides instructions for making a protein that regulates the movement of salt and water in and out of cells. Mutations in the CFTR gene can lead to the production of a defective protein that causes the symptoms of cystic fibrosis.

Why is this test Cystic Fibrosis Full Gene Sequence Analysis Test taken?

Why is the Cystic Fibrosis Full Gene Sequence Analysis Test taken?

The Cystic Fibrosis Full Gene Sequence Analysis Test is taken to diagnose or confirm the presence of cystic fibrosis, a genetic disorder that affects the lungs, pancreas, liver, and intestines. This test analyzes the entire CFTR gene, which is responsible for producing a protein that regulates the flow of salt and fluids in and out of cells. Mutations in the CFTR gene can lead to the production of a defective protein, causing the symptoms of cystic fibrosis.

By identifying specific mutations in the CFTR gene through this test, healthcare providers can diagnose cystic fibrosis, determine the severity of the disease, and develop personalized treatment plans for affected individuals. Early detection of cystic fibrosis through genetic testing can also help in managing symptoms and improving the quality of life for patients.

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