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Hi Andreas, We could simply send a sample to Sheffield genetics lab where it is done Let me know if you get any comments Cheers, Milad > On 9 Apr 2019, at 00:04, ACB-CLIN-CHEM-GEN automatic digest system <[log in to unmask]> wrote: > > There is 1 message totaling 349 lines in this issue. > > Topics of the day: > > 1. Hypophosphatasia diagnosis in mild phenotypes > > ------ACB discussion List Information-------- > This is an open discussion list for the academic and clinical community working in clinical biochemistry. > Please note, archived messages are public and can be viewed via the internet. Views expressed are those of the individual who posts and they are solely responsible for all message content. The ACB does not monitor posts. > > ACB Web Site > https://eur02.safelinks.protection.outlook.com/?url=http%3A%2F%2Fwww.acb.org.uk&data=02%7C01%7C%7Cd7ce8bd440534263547a08d6bc769591%7C84df9e7fe9f640afb435aaaaaaaaaaaa%7C1%7C0%7C636903614827148014&sdata=lImVwKXGgO5f4CbvXR3tw%2BL6KTZedv%2BhtW%2FMboUJhXA%3D&reserved=0 > Green Laboratories Work > https://eur02.safelinks.protection.outlook.com/?url=http%3A%2F%2Fwww.laboratorymedicine.nhs.uk&data=02%7C01%7C%7Cd7ce8bd440534263547a08d6bc769591%7C84df9e7fe9f640afb435aaaaaaaaaaaa%7C1%7C0%7C636903614827148014&sdata=JrgnP5Wb69VwRmXwuBnKT6XunNoCh%2F1v9frWDtA84Xk%3D&reserved=0 > List Archives > https://eur02.safelinks.protection.outlook.com/?url=http%3A%2F%2Fwww.jiscmail.ac.uk%2Flists%2FACB-CLIN-CHEM-GEN.html&data=02%7C01%7C%7Cd7ce8bd440534263547a08d6bc769591%7C84df9e7fe9f640afb435aaaaaaaaaaaa%7C1%7C0%7C636903614827148014&sdata=21MFuZLY3mlcQyiY8NdlJjCrfCZDUmHtDrhW0oBCflA%3D&reserved=0 > List Instructions (How to leave etc.) > https://eur02.safelinks.protection.outlook.com/?url=http%3A%2F%2Fwww.jiscmail.ac.uk%2F&data=02%7C01%7C%7Cd7ce8bd440534263547a08d6bc769591%7C84df9e7fe9f640afb435aaaaaaaaaaaa%7C1%7C0%7C636903614827148014&sdata=LL58gTc8wxBRRJwj%2BCNK8IeZnJ%2FGuE7GcYBLwyui%2FFM%3D&reserved=0 > > ---------------------------------------------------------------------- > > Date: Mon, 8 Apr 2019 13:39:58 +0000 > From: "Tridimas Andreas (RQ6) RLBUHT" <[log in to unmask]> > Subject: Hypophosphatasia diagnosis in mild phenotypes > > Dear Mailbase, > > Does anybody have any experience in diagnosing hypophosphatasia in mild phenotypic cases? I am developing a protocol for investigating low alkaline phosphatase in our metabolic bone clinic. Once secondary causes of low ALP are ruled out (e.g. low magnesium, low zinc, hypothyroidism, pernicious anaemia, oestrogen containing medications) in a patient with low ALP and mild phenotypic features (such as premature loss of dentition) but with only slight elevations in substrates (pyridoxal-5-phosphate and phosphoethanolamine) does anyone then proceed to TNSALP gene testing? > > For example we have a 41 year old female patient with early loss of dentition, chronic low ALP 16 u/l, Vitamin B6 (whole blood) 246 nmol/L (35-110), urinary phosphoethanolamine 15 umol/mmol (<10). > > Does anyone have an approach for dealing with such cases? Genetic testing? Nil as she is relatively unaffected? Label her as "biochemically suggestive of mild hypophosphatasia"? > > Any advice much appreciated, > > Regards, Andreas > > Dr Andreas Tridimas > ST5 Chemical Pathology & Metabolic Medicine > ACB North West Medical Trainee Rep > > Department of Clinical Biochemistry and Metabolic Medicine > Liverpool Clinical Laboratories > Royal Liverpool University Hospital > > 0151 706 4306 > > [sig] > > > ________________________________ > Click the links below to follow us > [Facebook Link]<https://eur02.safelinks.protection.outlook.com/?url=https%3A%2F%2Fwww.facebook.com%2Froyalliverpoolhospitals&data=02%7C01%7C%7Cd7ce8bd440534263547a08d6bc769591%7C84df9e7fe9f640afb435aaaaaaaaaaaa%7C1%7C0%7C636903614827148014&sdata=p1rVgP9WH3g52B2pUzMs1XEa2ElTtOBMWwFGhZsVvCg%3D&reserved=0> [https://eur02.safelinks.protection.outlook.com/?url=http%3A%2F%2Fwww.rlbuht.nhs.uk%2FPublishingImages%2Ftwitter.gif&data=02%7C01%7C%7Cd7ce8bd440534263547a08d6bc769591%7C84df9e7fe9f640afb435aaaaaaaaaaaa%7C1%7C0%7C636903614827158019&sdata=btHUqvxqRXlSFO4ibRrODQUxDY03JAJybXJBJFy9ncg%3D&reserved=0] <https://eur02.safelinks.protection.outlook.com/?url=https%3A%2F%2Ftwitter.com%2FRoyalLpoolHosps&data=02%7C01%7C%7Cd7ce8bd440534263547a08d6bc769591%7C84df9e7fe9f640afb435aaaaaaaaaaaa%7C1%7C0%7C636903614827158019&sdata=ig%2BYIvTt0NFaLmm%2BzeBIKTdmMuqUUvKoiSYbDDCQFuU%3D&reserved=0> [https://eur02.safelinks.protection.outlook.com/?url=http%3A%2F%2Fwww.rlbuht.nhs.uk%2FPublishingImages%2FYouTube.png&data=02%7C01%7C%7Cd7ce8bd440534263547a08d6bc769591%7C84df9e7fe9f640afb435aaaaaaaaaaaa%7C1%7C0%7C636903614827158019&sdata=HDzSYw2pZ%2FK3mY4QuPfsYYCmdDBMFQasNWdEAyoGreo%3D&reserved=0] <https://eur02.safelinks.protection.outlook.com/?url=https%3A%2F%2Fwww.youtube.com%2Fuser%2FRoyalLPoolHosps&data=02%7C01%7C%7Cd7ce8bd440534263547a08d6bc769591%7C84df9e7fe9f640afb435aaaaaaaaaaaa%7C1%7C0%7C636903614827158019&sdata=SO4fi9kL%2B1RsmTQKOd0P5w%2FkR3CZL2MVenLNaa2nNec%3D&reserved=0> [https://eur02.safelinks.protection.outlook.com/?url=http%3A%2F%2Fwww.rlbuht.nhs.uk%2FPublishingImages%2FInstagram.png&data=02%7C01%7C%7Cd7ce8bd440534263547a08d6bc769591%7C84df9e7fe9f640afb435aaaaaaaaaaaa%7C1%7C0%7C636903614827158019&sdata=sHu0hAqx%2FWKZnAmTx3fSK%2F8LniPk4%2Bsvm946L6j7XVM%3D&reserved=0] <https://eur02.safelinks.protection.outlook.com/?url=https%3A%2F%2Fwww.instagram.com%2Frlbuht%2F&data=02%7C01%7C%7Cd7ce8bd440534263547a08d6bc769591%7C84df9e7fe9f640afb435aaaaaaaaaaaa%7C1%7C0%7C636903614827158019&sdata=9leZlqwiBcVvLP2lABxSVQVvP%2F2MFCiuffXhhI69My8%3D&reserved=0> > [https://eur02.safelinks.protection.outlook.com/?url=http%3A%2F%2Fwww.rlbuht.nhs.uk%2FPublishingImages%2Fcqc.jpg&data=02%7C01%7C%7Cd7ce8bd440534263547a08d6bc769591%7C84df9e7fe9f640afb435aaaaaaaaaaaa%7C1%7C0%7C636903614827158019&sdata=no18I1vau1xPPU7af%2FljjWExNoanjc4iMyqH4eNhu0M%3D&reserved=0]<https://eur02.safelinks.protection.outlook.com/?url=http%3A%2F%2Fwww.rlbuht.nhs.uk%2FPages%2FRoyalHome.aspx&data=02%7C01%7C%7Cd7ce8bd440534263547a08d6bc769591%7C84df9e7fe9f640afb435aaaaaaaaaaaa%7C1%7C0%7C636903614827158019&sdata=xqYNdaS%2F5wVNlQRn9Jx1eOS2B79Yx3qRmSRaDm6k5c8%3D&reserved=0> > Any views or opinions presented are solely those of the author and do not necessarily represent those of the Royal Liverpool and Broadgreen University Hospitals (NHS) Trust. > This e-mail may contain confidential and/or proprietary Trust information some or all of which may be legally privileged. 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