Hi Soha
You'll find all the information you need on the UK Genetic Testing Network website (www.ukgtn.nhs.uk) - Cambridge is the lab you need.
Regards
Steve
Steve Davis
Principal Biochemist
Royal Glamorgan Hospital
Ynysmaerdy
PONTYCLUN
CF72 8XR
Tel. 01443 443357
Fax. 01443 443355
-----Original Message-----
From: Clinical biochemistry discussion list [mailto:[log in to unmask]] On Behalf Of Soha Zouwail
Sent: 13 January 2013 10:35
To: [log in to unmask]
Subject: Hypokalaemia
Dear all
We have a case of a 42y old male patient presenting to AE with metabolic alkalosis, hypokalaemia K=2.4, Mg 0.59, Adj Ca 2.16, Na 136, Normotensive, no previous medical history, not on any medications including OTC/herbal, no history of alcohol abuse, no preceeding vomiting or diarrhoea. Urine results are K=66, Na 163, Cl 184, Ca <0.50. The thought is that this could be an adult onset Bartter or Gitelman syndrome? I wonder if there is any genetic anaylsis available to confirm the condition and where. If not does any one use any other confirmatory tests?
Thank you
Best Wishes
Soha
Dr Soha Zouwail
Consultant Chemical pathology
Department of Medical Biochemistry and Immunology
University Hospital of Wales
Heath Park, Cardiff CF14 4XW
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