Where to get tested in the UK


Poeple with albinism and parents of affected children should ask their GP to refer them to a Comprehensive Care Centre, or CCC, to be tested for HPS.   Pease contact the HPS Network UK for information about your nearest CCC, consultant haemotologist, and written materials, before approaching your GP.  Our contact details are at the bottom of the ‘Home’ page or you can left click the ‘Contact Us’ button on the main menu.


Tests for HPS are carried out at Comprehensive Care Centres (CCCs).  CCCs specialise in the diagnosis and treatment of bleeding disorders.  They are staffed by Consultant haematologists, specialist haemophilia nurses, and other health professionals.  CCCs are also often referred to as ‘Haemophilia Centres’. The term ‘haemophilia’ is used in a general sense to cover a variety of bleeding problems in addition to haemophilia.


Few GP’s have heard of HPS and most have little understanding of the various subtypes of oculocutaneous or ocular albinism.   Some GP’s may be reluctant to refer patients for testing.  They tend to be more helpful when patients’ show that they have some knowledge and understanding of HPS. There are several misconceptions about HPS.  For instance, some doctors believe that HPS is only found in people with Puerto Rican ancestry - it is found in every nationality and ethnicity.  Preparation can help a patient to present a case for why they should get tested and help them to correct misunderstandings.


It often helps to give written materials to a GP.  Again, the HPS Network UK can help you with this.  You can gain a better understanding of HPS by reading various pages of this website.  Go to the main menu at the top of each page and click on ‘What is HPS’ to read about the characteristics of HPS.


When a GP refuses to refer a patient with albinism for testing, experience has shown, that it is worthwhile contacting a CCC directly.  Ask to talk with the lead consultant haemotologist.  Explain your concerns and ask if they would be willing to contact your GP.  Patients using the UK National Health System do have a statutory right to request a second opinion.


Tests for Hermansky-Pudlak Syndrome


There are currently three ways to test for HPS:


  1. Lumi-aggregometry with ATP-release using a Chrono-Log Lumi-aggregometer,
  2. A ‘nucleotide assay’
  3. Electron microscopy using the whole mount procedure with no fixing, staining, or coating

These methods are described in detail on separate pages under the main menu item ‘Tests for HPS’

Important


Of the three methods Electron Microscopy (EM) represents the gold standard.  However, access to electron microscopy is very limited in the UK outside of the largest teaching hospitals.  Both Lumi-aggregometry with ATP-release and Nucleotide assay are more widely available through Comprehensive Care Centres (CCCs) in larger hospitals.


HPS is a difficult syndrome to test for due to the wide variation in the severity of the bleeding disorder between patients.  Also, diagnostic tests can have limitations.  For this reason it is best if a combination of methods are used.  Lumi-Aggregometry with ATP-release and a Nucleotide assay should ideally be used in combination.

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How to get tested for Hermansky-Pudlak Syndrome