About Careers Internship MedBlogs Contact us
Medindia LOGIN REGISTER
Advertisement

Diagnosis of Gaucherís Disease

Font : A-A+

Diagnosis of Gaucherís Disease

Measurement of specific enzyme level and genetic analysis are employed to diagnose Gaucherís disease.

Advertisement

Enzyme Analysis:

Patients with Gaucherís disease have low levels of glucocerebrosidase. Carriers (i.e. those who do not have the disease but carry the gene responsible for Gaucherís) have an intermediate enzyme level (i.e. between normal level and the level found in patients).

Genetic analysis:

This is not a definitive test since it searches only for the four most common mutations and few others. More than 300 genetic mutations are known to be associated with Gaucherís disease.

Apart from these tests, imaging modalities are also employed:

Dual energy X-ray absorptiometry (DXA): This test is used to measure bone density.

CT-scan, MRI-scan, Ultrasound scan, and X-ray scans are routinely employed.

Citations   close

Please use one of the following formats to cite this article in your essay, paper or report:

  • APA

    Dr. Reeja Tharu. (2014, September 19). Diagnosis of Gaucherís Disease. Medindia. Retrieved on May 27, 2022 from https://www.medindia.net/patients/patientinfo/gauchers-disease-diagnosis.htm.

  • MLA

    Dr. Reeja Tharu. "Diagnosis of Gaucherís Disease". Medindia. May 27, 2022. <https://www.medindia.net/patients/patientinfo/gauchers-disease-diagnosis.htm>.

  • Chicago

    Dr. Reeja Tharu. "Diagnosis of Gaucherís Disease". Medindia. https://www.medindia.net/patients/patientinfo/gauchers-disease-diagnosis.htm. (accessed May 27, 2022).

  • Harvard

    Dr. Reeja Tharu. 2021. Diagnosis of Gaucherís Disease. Medindia, viewed May 27, 2022, https://www.medindia.net/patients/patientinfo/gauchers-disease-diagnosis.htm.


Post a Comment

Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.

Advertisement
Health Topics A - Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z



    What's New on Medindia
    Monkeypox Outbreak: What it is, How Does it Spread & the Prevention
    Seasonal Allergy Medications
    How to Choose the Best Eczema-Friendly Moisturizer for Children?
    View all

    Medindia Newsletters Subscribe to our Free Newsletters!
    Terms & Conditions and Privacy Policy.

    Most Popular on Medindia

    Indian Medical Journals Find a Hospital The Essence of Yoga Calculate Ideal Weight for Infants Hearing Loss Calculator Sinopril (2mg) (Lacidipine) Sanatogen Iron Intake Calculator Drug Interaction Checker Blood Pressure Calculator

    Disclaimer - All information and content on this site are for information and educational purposes only. The information should not be used for either diagnosis or treatment or both for any health related problem or disease. Always seek the advice of a qualified physician for medical diagnosis and treatment. Full Disclaimer

    © All Rights Reserved 1997 - 2022

    This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use
    open close
    CONSULT A DOCTOR