Join/Watch the weekly
TMAU UP Podcasts

MEBO Private Facebook Group
to join : contact
maria.delatorre@meboresearch.org

MEBO Map Testing & Meetups


Full details : https://goo.gl/TMw8xu
want listed ? contact map@meboresearch.org

MEBO TMAU urine test

MEBO Research
TMAU Urine Test
United States only
PROGRAM IS PERMANENTLY SUSPENDED AS OF 2 MAY 2017

Click here for
REQUISITION FORM
Incomplete applications
will NOT be processed

SEE UPDATES HERE

1
test
$150 plus
shipping costs
2
tests
$250 plus
shipping costs

TWO PAYMENT PLAN OPTION
Send email to maria.delatorre@meboresearch.org to arrange, AFTER filling out Requisition Form, please.

Test analysis performed in batches of 20 or more

DATE: 2 MAY 2017
Currently on : PROGRAM IS TEMPORARILY SUSPENDED

Samples analyzed since June 2012 :
352
Metabolomic Profiling Study
NCT02683876

Start : Aug 2016
Stage 1 : 27 Canadian volunteers to test
Latest click here (26 oct) :
17 samples returned


Note : Stage 1 is Canada only.
Return cut-off date : passed
Analysis can take 6/8 weeks
Analysis start in/before Nov
MEBO Research is a
EURORDIS and
NORD Member Organization
See RareConnect
BannerFans.com
RESEARCH DETAILS

DONATIONS THRU 31-NOV-2016:
£ 943.03/GBP
$ 568.00/USD

TOTAL at today's ROE
£0.80/GBP = $1.00/USD

£1,398.07 = $1,745.14

MEBO UK PAYPAL FOR TRINZYME

********
MEBO US PAYPAL FOR TRINZYME

Your currency will be automatically converted to USD or GBP by PayPal.

Option: pay with your credit card instead of PayPal account by clicking on either Donate button above.

Popular Posts (last 30 days)

Upcoming get-togethers


Let us know if you want a meetup listed

Subscribe to Blog

Enter your email address:

Delivered by FeedBurner

You will be sent a verification email

Subscribe in a reader

Blog Archive

Monday, November 5, 2012

Clinical utility gene card for: Trimethylaminuria



European Journal of Human Genetics (2012) 20, doi:10.1038/ejhg.2011.214; published online 30 November 2011

Elizabeth A Shephard*1, Eileen P Treacy*2,3 and Ian R Phillips*4

CLINICAL UTILITY GENE CARD


This clinical utility gene card includes the following information:

  • DISEASE CHARACTERISTICS, i.e., Name of the disease (synonyms), OMIM# of the disease, Name of the analysed genes or DNA/chromosome segments, OMIM# of the gene(s), Mutational spectrum, Analytical methods, Analytical validation, Estimated frequency of the disease in Germany (incidence at birth (‘birth prevalence’) or population prevalence), If applicable, prevalence in the ethnic group of investigated
    person, and Diagnostic setting.
  • TEST CHARACTERISTICS,
    1. Analytical sensitivity
      (proportion of positive tests if the genotype is present),
    2. Analytical specificity
      (proportion of negative tests if the genotype is not present)
    3. Clinical sensitivity
      (proportion of positive tests if the disease is present)
    4. Clinical specificity
      (proportion of negative tests if the disease is not present)
    5. Positive clinical predictive value
      (life-time risk to develop the disease if the test is positive)
    6. Negative clinical predictive value
      (probability not to develop the disease if the test is negative)
  • CLINICAL UTILITY
    1. (Differential) diagnosis: The tested person is clinically affected
      • Can a diagnosis be made other than through a genetic test?
      • Describe the burden of alternative diagnostic methods to the
        patient
      • How is the cost effectiveness of alternative diagnostic methods
        to be judged?
      • Will disease management be influenced by the result of a
        genetic test?
    2. Predictive setting: The tested person is clinically unaffected but
      carries an increased risk based on family history
    3. Will the result of a genetic test influence lifestyle and prevention?
    4. Which options in view of lifestyle and prevention does a person at-risk have if no genetic test has been done (please describe)?
  • Genetic risk assessment in family members of a diseased person
  • Does the result of a genetic test resolve the genetic situation in
    that family?
  • Can a genetic test in the index patient save genetic or other tests in family members?
  • Does a positive genetic test result in the index patient enable a predictive test in a family member?
  • Prenatal diagnosis
  • Does a positive genetic test result in the index patient enable a
    prenatal diagnostic?


  • IF APPLICABLE, FURTHER CONSEQUENCES OF TESTING



  • Also see Orphanet listing of Trimethylaminuria.




    A EURORDIS and
    NORD Member Organization

    0 comments:

    Post a Comment