Refer a case
GUaRDIAN offers a unique opportunity for clinicians to refer cases of rare genetic diseases and get appropriate high-quality assessment of the genomic variants. The network also includes a number of physicians and geneticists from all over the country and provides a motivating forum for interaction and exchange of ideas and knowledge.
PLEASE NOTE:
GUaRDIAN IS A RESEARCH NETWORK, AND NOT A CLINICAL SERVICE. CLINICIANS WHOULD LIMIT THE REFERRAL OF CASES WHICH HAVE NOT BEEN DIAGNOSED DESPITE THE BEST RESOURCES AVAILABLE. AS IT IS EXPECTED OF ANY IN-DEPTH RESEARCH INITIATIVE, RESULTS MAY NOT BE POSSIBLE WITHIN A STRICT TURNAROUND TIME. ANY PATHOGENIC / LIKELY PATHOGENIC VARIANTS WOULD BE COMMUNICATED BACK TO THE CLINICIAN WITHOUT DELAY FOR CLINICAL ACTION AND COUNSELLING.
Kindly feel free to reach us by email for any clarifications.
Step 0 Referring us a case
Referring cases to us is simple. You could contact us and let us know whether the case meets the inclusion criteria for the study using the standard proforma.
The filled in proforma may be mailed to
Diseases not listed below : Dr Vinod Scaria (vinods@igib.in) or Dr Sridhar Sivasubbu (sridhar@igib.in)
For Liver Diseases, please contact : Dr. Binukumar BK binukumar@igib.res.in
For Hemoglobinopathies, please contact : Dr. Sivaprakash Ramalingam sivaramalingam@igib.res.in
For Gaucher Disease, please use this clinical proforma and contact : Dr. Sivaprakash Ramalingam sivaramalingam@igib.res.in
For Cardiac Channelopathies and Cardiomyopathy: Dr Sridhar Sivasubbu (sridhar@igib.in)
Once you get a go-ahead from us, we would ship you the package. This includes the necessary consent forms, Patient Information Sheet and tubes for the collection of blood samples. The analysis is presently funded through a research grant and this should not cost the participants or you anything.
Step 1 Consent and Documentation
Obtain the necessary consent , patient information and clinical details. The consent form needs to be signed by the patient(or parent/guardian if patient is a minor), while the questionnaire needs to be filled by the consulting clinician. Each individual in the family will require a separate consent.
Step 2 Sample Collection
We would require whole blood by venipuncture (in some exceptional cases, saliva or other body fluids) in the specified tubes. Approximately 5ml per individual is sufficient for all analysis. The tubes need to be marked appropriately with necessary details. Please store the tubes in a cool place. Do not refrigerate.
Step 3 Packaging the tubes and documents
Please package the tubes into an appropriate sized cardboard box. Please use padded cotton or paper to pad the tubes appropriately. Please store the tubes in a cool place. Do not refrigerate. Please print and paste the address for postage.
Once you are done, please let us know. Email us or call us to inform the package is ready for pickup..
Step 4 Sending us the package
We usually pick the samples from your premises the next business day of informing us.
You will require to fill in, sign and stamp the Consignment information form and leave it with the person who picks the package from your premises.
In places where direct pickup is not available, please drop the package at the nearest courier office with the token number we provide. You will not need to pay anything for the courier.