Both the HPS Network UK and the US based HPS Network Inc. take the position that parents of children with albinism should be offered a test for HPS.

It is important to know if a person has HPS so that care plans can be put in place to cover the bleeding disorder and to monitor and treat other symptoms of HPS if they develop.

How do you know if someone has Hermansky-Pudlak Syndrome or another type of Oculocutaeous Albinism ?

There are only two ways to know whether a person has either HPS or another form of albinism.

  1. They are tested for HPS and get a positive result.
  2. The results of a molecular genetic test show a conclusive positive result for a type of oculocutaneous albinism that is not HPS (Read more).

There are cases were patients have negative results for both the known subtypes of OCA and also for HPS. These cases reflect gaps in the current knowledge.of both HPS and the subtypes of OCA and OA.

Molecular genetic testing is rarely offered to patients diagnosed with OCA or OA unless it is specifically requested.   Some people report doctors refusing to carry out molecular genetic testing for a variety of reasons.

At the current time molecular genetic testing is not an appropriate method for diagnosing  HPS.  This may change in the future as the cost of genome sequencing comes down and the techniques become more accurate and reliable.  There are 9 subtypes of HPS caused by mutations to 9 different genes that are different from those known to cause OCA and OA.

Why get tested for Hermansky-Pudlak Syndrome ?

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