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Molecular Testing for Microsporidiosis

Last updated Aug. 22, 2017

Molecular testing for Microsporidiosis is based on identifying specific stretches of DNA sequences unique to genera of fungi belonging group of intracellular fungi collectively known as Microsporidia.

What are the other Names for this Test? (Equivalent Terms)

  • Test for Molecular Diagnosis of Microsporidiosis

What is Molecular Testing for Microsporidiosis? (Background Information)

  • Molecular testing for Microsporidiosis is based on identifying specific stretches of DNA sequences unique to genera of fungi belonging group of intracellular fungi collectively known as Microsporidia
  • There are 15 species of the fungus known to cause infection, of which 6 are more common in humans, namely, Anncaliia algerae,Anncaliia connori,Encephalitozoon cuniculi,Encephalitozoon hellem, Encephalitozoon intestinalisand Vittaforma corneae
  • The lab test results may be useful in identifying the specific organism causing the infection, to ensure uninfected status, to differentiate between different disease causing microbes, and to confirm a preliminary diagnosis
  • The test results may also be useful in conducting further lab tests to identify the sensitivity of the fungal species listed above to anti-microbial agents, so that effective treatment can be undertaken

Molecular testing for infectious organisms (viruses, bacteria, fungi, and parasites) can be performed using a variety of methods. Some of these methods include:

  • In situ hybridization techniques, such as fluorescence in situ hybridization (FISH)
  • Immunohistochemistry (IHC)
  • 16S rRNA for bacterial pathogens
  • Branch DNA (bDNA) assays
  • Hybrid capture assay
  • Nucleic acid amplification tests (NAATs), such as species-specific polymerase chain reaction (PCR), real-rime PCR
  • Transcription mediated amplification
  • Next-generation sequencing (NGS)
  • Reverse hybridization
  • Comparative genomic hybridization (CGH)
  • Whole genome sequencing
  • Flow cytometric assays with specific microbeads to detect pathogens
  • mRNA analysis
  • Nucleic acid arrays 
  • Mass spectrometric analysis

Note: There may be limitations to the testing due to the method being used. Consultation with your healthcare provider will help in determining the right test and right molecular method, based on individual circumstances.

What are the Clinical Indications for performing the Molecular Testing for Microsporidiosis Test?

Molecular Testing for Microsporidiosis is undertaken in the following situations: 

  • To assist in or confirm, the initial diagnosis of Microsporidiosis
  • To distinguish between pathogens that produce similar symptoms 
  • To eliminate suspected pathogens
  • To help in determining treatment options

How is the Specimen Collected for Molecular Testing for Microsporidiosis?

Following is the specimen collection process for Molecular Testing for Microsporidiosis:

The specimen sample requirements may vary from lab to lab. Hence, it is important to contact the testing lab for exact specimen requirements, before initiating the testing process.

Sample on which the test is performed may include:

  • Peripheral blood in individuals showing signs and symptoms suspected of Microsporidiosis
  • Blood or tissue sample from individuals who are blood or organ donors
  • Body fluids such as saliva, urine, cerebrospinal fluid (CSF), pleural fluid, ascites fluid, drainage from abscesses and lesions, sputum, phlegm, and mucus (from nose, throat and genitals) 
  • Specimen obtained through swaps from different sites in the body, such as nasal, throat, corneal, vaginal, rectal and from lesions
  • Stool 
  • Fresh tissue from biopsy 
  • Fresh tissue from autopsy sample 
  • Fresh tissue from fetal demise
  • Products of conception sample from aborted pregnancy

Important Information:

Turnaround time for test results

  • Depending on the location of testing, it may take anywhere from 3 days to 3 weeks from the time of sample collection, to obtain test results

Sample storage information

  • Many hospitals preserve the paraffin blocks for at least 7 years. In general, older paraffin blocks (over 5 years) may affect the detection of specific mutations, due to degradation of the tissue specimen over time

Cost ofMolecular Testing forMicrosporidiosis:

  • The cost of the test procedure depends on a variety of factors, such as the type of your health insurance, annual deductibles, co-pay requirements, whether your healthcare provider/facility is in-network or out-of-network of your insurance company 
  • In many cases, an estimate may be provided before the test is conducted. The final amount may depend upon the findings during the test procedure and post-operative care, if required

What is the Significance of the Molecular Testing for Microsporidiosis Result?

The significance of Molecular Testing for Microsporidiosis is explained below:

  • A positive test result helps aid, and in some cases, confirm the presence of a specific pathogen
  • The test results can help in the following manner:
    • Ensure that an individual does not have an infection - as part of a routine screening procedure
    • Ensure that prospective donors do not have an infection that can be passed on to the recipients
    • Identify the pathogen in an individual suffering from an active infection
    • Exclude other conditions presenting with similar signs and symptoms
    • Make treatment decisions
    • Determine the prognosis of an affected individual

The laboratory test results are NOT to be interpreted as results of a "stand-alone" test. The test results have to be interpreted after correlating with suitable clinical findings and additional supplemental tests/information. Your healthcare providers will explain the meaning of your tests results, based on the overall clinical scenario.

Additional and Relevant Useful Information:

  • Many laboratories may not have the capability to perform molecular diagnostic tests. Only highly-specialized labs with advanced facilities and testing procedures may offer these tests
  • Microsporidiosis is also known as, or is closely-related to the medical conditions Microsporan Infection, Microsporidea Infection and Infection by Microsporida Sp.

Certain medications may influence the outcome of the test. Hence, it is important to inform your healthcare provider of the complete list of medications (including any herbal supplements) you are currently taking. This will help the healthcare provider interpret your test results more accurately and avoid any possibility of a misdiagnosis.

What are some Useful Resources for Additional Information?

Please visit our Laboratory Procedures Center for more physician-approved health information:


References and Information Sources used for the Article:

https://www.cdc.gov/anthrax/specificgroups/lab-professionals/recommended-specimen.html (accessed on 05/30/2017)

http://www.merckmanuals.com/home/infections/diagnosis-of-infectious-disease/diagnosis-of-infectious-disease (accessed on 05/30/2017)

https://www.fda.gov/biologicsbloodvaccines/bloodbloodproducts/approvedproducts/licensedproductsblas/blooddonorscreening/infectiousdisease/default.htm (accessed on 05/30/2017)

https://wwwnc.cdc.gov/eid/article/2/3/96-0304_article (accessed on 05/30/2017)

https://www.hindawi.com/journals/ipid/2009/926521/ (accessed on 05/30/2017)

http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/63097 (accessed on 05/30/2017)

Helpful Peer-Reviewed Medical Articles:

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Muldrew, K. L. (2009). Molecular diagnostics of infectious diseases. Current opinion in pediatrics, 21(1), 102-111.

Opota, O., Jaton, K., & Greub, G. (2015). Microbial diagnosis of bloodstream infection: towards molecular diagnosis directly from blood. Clinical Microbiology and Infection, 21(4), 323-331.

Emmadi, R., Boonyaratanakornkit, J. B., Selvarangan, R., Shyamala, V., Zimmer, B. L., Williams, L., … Bernard, K. (2011). Molecular Methods and Platforms for Infectious Diseases Testing: A Review of FDA-Approved and Cleared Assays. The Journal of Molecular Diagnostics: JMD, 13(6), 583–604. http://doi.org/10.1016/j.jmoldx.2011.05.011

Janossy, G., & Shapiro, H. (2008). Simplified cytometry for routine monitoring of infectious diseases. Cytometry Part B: Clinical Cytometry, 74(S1), S6-S10.

Wroblewski, J. K. H., Manhart, L. E., Dickey, K. A., Hudspeth, M. K., & Totten, P. A. (2006). Comparison of Transcription-Mediated Amplification and PCR Assay Results for Various Genital Specimen Types for Detection of Mycoplasma genitalium. Journal of Clinical Microbiology, 44(9), 3306–3312. http://doi.org/10.1128/JCM.00553-06

Booth, S. A., Drebot, M. A., Tipples, G. A., & Ng, L. K. (2000). Application of DNA array technology for diagnostic microbiology. The Canadian Journal of Infectious Diseases, 11(6), 291–294.

Rantakokko-Jalava, K., Nikkari, S., Jalava, J., Eerola, E., Skurnik, M., Meurman, O., … Kotilainen, P. (2000). Direct Amplification of rRNA Genes in Diagnosis of Bacterial Infections. Journal of Clinical Microbiology, 38(1), 32–39.

Mirjalali, H., Mohebali, M., Mirhendi, H., Gholami, R., Keshavarz, H., Meamar, A. R., & Rezaeian, M. (2014). Emerging Intestinal Microsporidia Infection in HIV^ sup+^/AIDS Patients in Iran: Microscopic and Molecular Detection. Iranian journal of parasitology, 9(2), 149-154.

Hocevar, S. N., Paddock, C. D., Spak, C. W., Rosenblatt, R., Diaz-Luna, H., Castillo, I., ... & Tiller, R. V. (2014). Microsporidiosis Acquired Through Solid Organ TransplantationA Public Health Investigation. Annals of internal medicine, 160(4), 213-220.

Galván, A. L., Magnet, A., Izquierdo, F., Fenoy, S., Rueda, C., Vadillo, C. F., ... & del Aguila, C. (2013). Molecular characterization of human-pathogenic microsporidia and Cyclospora cayetanensis isolated from various water sources in Spain: a year-long longitudinal study. Applied and environmental microbiology, 79(2), 449-459.

Ghoshal, U., Khanduja, S., Agarwal, V., Dhole, T. N., & Ghoshal, U. C. (2015). Comparative evaluation of staining techniques and polymerase chain reaction for diagnosis of intestinal microsporidiosis in immunocompromised patients. Tropical parasitology, 5(2), 101-105.

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Aug. 22, 2017
Last updated: Aug. 22, 2017