Dear All,
We have been providing e-consultation on suspected PID patients for Asian pediatric colleagues and lately African colleagues as well.
After the e-consultation, if agreed by both sides and parental/patient consent has been obtained for the appropriate genetic mutation analysis, our research lab will offer the mutation analysis by PCR Sanger sequencing of the candidate genes, free of charge, as we are research lab and not a service lab. The referring team is then informed of the result in 1-3 months depending on the types of PID and work load. The referring team is then responsible for the interpretation and counseling for the family and patient.
We are able to offer over 60 PID genes analysis and have provided this e-consultation and mutation analysis for over 850 suspected PID patients with about 50% of them diagnosed with disease-causing genetic mutations, as well as carrier status and prenatal diagnosis for the family members when the index patient is found to have a mutation.
Ada, my secretary will send you a review article on this Asian PID network for your information. I also introduce Dr. Pamela Lee , my key colleague in PID service, who shall send you some of our publications of the PID patients who were diagnosed through this network.
I am happy to offer the STAT3 analysis for this boy, but need a detailed clinical summary with all the relevant tests results done so as to make a judgment. Wing is our lab manager responsible for the diagnostic test and will liaise with you on how to register and send the DNA samples to us.
Warmest regards,
Yu Lung
Professor Yu-Lung LAU
Doris Zimmern Professor in Community Child Health
Chair Professor of Paediatrics
Department of Paediatrics & Adolescent Medicine
LKS Faculty of Medicine
The University of Hong Kong
Tel: (852) 2255 4481
Fax: (852) 2855 1523
Email: lauylung@hku.hk
Website: www.hku.hk/paed/
