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Xpert MTB/RIF: Introduction, Principle, Procedure, Result-Interpretation, Uses, and Keynotes

Introduction

The Xpert MTB/RIF assay is an automated, cartridge-based molecular test used to detect Mycobacterium tuberculosis (MTB) and rifampicin (RIF) resistance, the most potent first-line anti-TB drug.

Fig. GeneXpert IV 4-module system

Endorsed by the WHO in 2010, the Xpert MTB/RIF assay revolutionized TB diagnosis by providing results in less than two hours. It is performed on the Cepheid GeneXpert System, which integrates sample processing and real-time PCR into a single-use disposable cartridge.

Principle

The assay uses nested real-time PCR and molecular beacons to amplify and detect a specific DNA sequence of the rpoB gene.

  • Target: An 81-base pair “core region” (RRDR) of the rpoB gene.
  • Mechanism: Five molecular beacons (Probes A–E) are used; each is labeled with a different fluorophore. They are designed to differentiate between the wild-type (normal) sequence and mutations associated with rifampicin resistance.

Procedure

  1. Sample Collection: Collect at least 1 mL of raw sputum or 0.5 mL of sputum sediment.
  2. Liquefaction: Add twice the volume of Xpert Sample Reagent to the sample.
  3. Incubation: Shake vigorously and incubate at room temperature for 15 minutes (with a second shake after 10 minutes) until the sample is completely liquefied.
  4. Loading: Use a sterile pipette to transfer 2 mL of the treated sample into the Xpert MTB/RIF cartridge.
  5. Running the Test: Scan the cartridge barcode, insert the cartridge into the GeneXpert module, and start the run via the software. Results are ready in approximately 100 minutes.
Fig. GeneXpert® Xpert® MTBRIF diagnostic cartridge

Result Interpretation

ResultMeaning
MTB Detected; RIF Resistance Not DetectedPositive for TB; likely susceptible to rifampicin.
MTB Detected; RIF Resistance DetectedPositive for TB; indicates multidrug-resistant TB (MDR-TB).
MTB Detected; RIF Resistance IndeterminateTB is present, but the load is too low to determine RIF status.
MTB Not DetectedNo M. tuberculosis DNA found.
Invalid / Error / No ResultTest failed due to sample processing error or instrument issues; must be repeated.
Fig. GeneXpert® Xpert® MTBRIF Test Result- MTB Detected (Very Low) and Rifampicin Resistance Not Detected

Uses

  • Rapid Diagnosis: Primary diagnostic tool for individuals with clinical suspicion of pulmonary TB.
  • MDR-TB Screening: Quickly identifies patients likely to have multidrug-resistant strains.
  • HIV/TB Co-infection: Preferred test for people living with HIV, as they often have low bacterial loads (smear-negative).
  • Infection Control: Aids in deciding if a patient should be placed in or removed from airborne isolation.

Keynotes

  • Not for Monitoring: It cannot be used to monitor treatment response because it detects both live and dead DNA.
  • Controls: Each cartridge includes a Sample Processing Control (SPC) to monitor PCR inhibitors and a Probe Check Control (PCC) to verify reagent integrity.
  • Sensitivity: Significantly more sensitive than AFB smear microscopy, especially in smear-negative, culture-positive cases.
  • Culture Still Required: Culture remains necessary for definitive drug susceptibility testing for other drugs (e.g., isoniazid).

Further Readings

  1. https://web-support.cepheid.com/Package%20Insert%20Files/Xpert%20MTB-RIF/Xpert%20MTB-RIF%20ENGLISH%20IFU%20303-0942%20Rev%20B.pdf
  2. https://redemc.net/campus/wp-content/uploads/2019/04/Implementation-of-GeneXpert-WHO-2014.pdf?x18977
  3. https://www.moleculartb.org/files/documents/2
  4. https://web-support.cepheid.com/Package%20Insert%20Files/Xpert-MTB-RIF-ENGLISH-Package-Insert-301-1404-Rev-G.pdf
  5. https://infomine.cepheid.com/sites/default/files/2023-07/Xpert%20MTB_RIF%20ENGLISH%20Package%20Insert%20301-0191%20Rev%20K.pdf
  6. https://iris.who.int/server/api/core/bitstreams/5a1e1a56-d13d-45b2-a120-f8ccc2e3c992/content
  7. https://ijmpr.in/article/detection-of-mycobacterium-tuberculosis-and-rifampicin-resistance-by-gene-xpert-method-among-extrapulmonary-clinical-specimens-a-cross-sectional-study-1680/
  8. https://www.sciencedirect.com/science/article/pii/S1876034120306055
  9. https://www.springermedizin.de/evaluation-of-gene-xpert-for-routine-diagnosis-of-hiv-associated/12326456
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