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Dear Mohammed, Our laboratory offers genetic analysis of the ALPL gene; we perform sequencing of the entire coding region and intron/exon splice junctions of the gene. The analysis takes approx. 2-3 weeks. This testing allows identification of sequence variants in the analysed gene regions (nucleotide substitutions, small deletions and insertions etc.); however intron mutations deletions or duplications of one or more entire exons may not be identified. Two such large deletions in the ALPL gene are currently described in the literature. Please do not hesitate to contact me if you have further questions or comments. Best regards Mike Priv.-Doz. Dr. med. Michael Steiner Medizinisches Labor Rostock Suedring 81 D-18059 Rostock [log in to unmask] Von: Clinical biochemistry discussion list [mailto:[log in to unmask]] Im Auftrag von Mohammad Al-Jubouri Gesendet: Dienstag, 5. Juli 2011 10:38 An: [log in to unmask] Betreff: Hypophosphatasia diagnosis A 34-year-old man who has had consistently low serum ALP level at 18 IU/L, no specific bone or dental symptom. Is there any further testing that could performed on serum sample to investigate possible hypophosphatasia. If any body is interested, I could send a serum aliquot for further tests. thanks Mohammad Dr. M A Al-Jubouri, MB ChB, MSc, FRCP Edin, FRCPath Consultant Chemical Pathologist ------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 and they are responsible for all message content. ACB Web Site http://www.acb.org.uk Green Laboratories Work http://www.laboratorymedicine.nhs.uk List Archives http://www.jiscmail.ac.uk/lists/ACB-CLIN-CHEM-GEN.html List Instructions (How to leave etc.) http://www.jiscmail.ac.uk/ ------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 and they are responsible for all message content. ACB Web Site http://www.acb.org.uk Green Laboratories Work http://www.laboratorymedicine.nhs.uk List Archives http://www.jiscmail.ac.uk/lists/ACB-CLIN-CHEM-GEN.html List Instructions (How to leave etc.) http://www.jiscmail.ac.uk/