Cystic Fibrosis CFTR Gene Panel Deletion Duplication Analysis MLPA

• Test Name: Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Panel Deletion/Duplication Analysis using Multiplex Ligation-dependent Probe Amplification (MLPA)
• Test Type: Genetic analysis
• Specimen Required: Blood sample or buccal swab (for DNA extraction)
• Methodology: Multiplex Ligation-dependent Probe Amplification (MLPA)
• Purpose: Detects deletions or duplications in the CFTR gene associated with cystic fibrosis to confirm diagnosis, and carrier status, or to assess risk in prenatal or preconception scenarios.

• Diagnosis: Confirms the diagnosis of cystic fibrosis (CF) by identifying deletions or duplications in the CFTR gene.
• Carrier Screening: Determines carrier status for CF, particularly in individuals with a family history or partners planning a family.
• Prenatal Diagnosis: Used in prenatal testing to assess the risk of CF in the fetus if one or both parents are known carriers.
• Genetic Counseling: Provides essential information for genetic counselling in families with a history of CF.

• Components:
  • DNA extraction from a blood sample or buccal swab.
  • MLPA reagents are specific to the CFTR gene.
  • Control probes to ensure the accuracy and reliability of the analysis.
  • Detailed report of detected deletions or duplications in the CFTR gene.
• Procedure:
  • DNA is extracted from the patient’s sample.
  • The extracted DNA undergoes MLPA to detect large deletions or duplications in the CFTR gene.
  • Results are analyzed and reported by a geneticist.

• Normal Findings: No deletions or duplications were detected in the CFTR gene, suggesting a lower likelihood of CF if the clinical symptoms are absent.
• Detected Abnormalities: Presence of deletions or duplications in the CFTR gene, confirming a diagnosis of cystic fibrosis or indicating carrier status.
• Heterozygous Findings: Detection of a single deletion or duplication may suggest carrier status.
• Clinical Correlation: Results must be correlated with clinical symptoms, family history, and other CFTR gene mutation analyses for a comprehensive diagnosis.

• Qualitative: Identifies the presence or absence of deletions or duplications in the CFTR gene.
• Interpretation: Results are categorized as normal, carrier, or affected, based on the detected genetic variation.
• Report: A detailed genetic report is provided, explaining the significance of the findings.
• Turnaround Time: Typically within 2-3 weeks, depending on the laboratory.

Q. What is the Cystic Fibrosis CFTR Gene Panel Deletion Duplication Analysis MLPA Test?
This genetic test uses MLPA technology to detect deletions or duplications in the CFTR gene, which are associated with cystic fibrosis
 

Q. Why is the Cystic Fibrosis CFTR Gene Panel Deletion Duplication Analysis MLPA Test ordered?
The test is ordered to confirm a diagnosis of cystic fibrosis, determine carrier status, or assess the risk of CF in prenatal scenarios
 

Q. How is the Cystic Fibrosis CFTR Gene Panel Deletion Duplication Analysis MLPA Test performed?
A blood sample or buccal swab is collected, DNA is extracted, and MLPA is performed to detect genetic deletions or duplications in the CFTR gene
 

Q. What do the results of the Cystic Fibrosis CFTR Gene Panel Deletion Duplication Analysis MLPA Test indicate?
The presence of deletions or duplications in the CFTR gene indicates cystic fibrosis or carrier status, while the absence of such findings suggests a lower likelihood of CF
 

Q. Do I need to prepare for the Cystic Fibrosis CFTR Gene Panel Deletion Duplication Analysis MLPA Test?
No special preparation is needed for this test, but genetic counselling may be recommended before and after testing to understand the implications of the results
 

Q. How long does it take to receive results from the Cystic Fibrosis CFTR Gene Panel Deletion Duplication Analysis MLPA Test?
Results are typically available within 2-3 weeks after the sample is submitted to the laboratory
 

Q. What should I do if my Cystic Fibrosis CFTR Gene Panel Deletion Duplication Analysis MLPA Test results are abnormal?
If abnormal results are detected, your healthcare provider will discuss the findings with you, and genetic counselling may be recommended to explore your options and implications for family planning