View source for Albinism laboratory findings

__NOTOC__
{{Albinism}}
{{CMG}}; {{AE}} {{S.M}}

==Overview==
The laboratory tests for diagnosis of [[albinism]] include [[hair bulb]] assay for determination of [[tyrosinase]] activity, [[Genetic sequence]] testing which is the most definite test, bleeding tests in suspected patients with [[Hermansky-Pudlak syndrome]], and evaluation of [[polymorphonuclear leukocyte]] function in suspected patients with  [[Chediak-Higashi syndrome]].
==Laboratory Findings==
*The laboratory tests for diagnosis of [[albinism]] include:<ref name="pmid17980020">{{cite journal| author=Grønskov K, Ek J, Brondum-Nielsen K| title=Oculocutaneous albinism. | journal=Orphanet J Rare Dis | year= 2007 | volume= 2 | issue=  | pages= 43 | pmid=17980020 | doi=10.1186/1750-1172-2-43 | pmc=2211462 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17980020  }} </ref><ref>{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK519018/ |title=Albinism - StatPearls - NCBI Bookshelf |format= |work= |accessdate=}}</ref>
** [[Hair bulb]] assay for determination of [[tyrosinase]] activity
*** This test is not sensitive because a negative test may indicate OCA1 but even with positive test results, patients might have OCA 1, OCA 2, OCA 3, or OA 1
** [[Genetic sequence]] testing
*** The most definite test in diagnosis of [[albinism]]
*** This test is useful among individuals with familial history of [[albinism]]
*** [[Genetic testing]] can be done to determine if a fetus had [[albinism]]
** Bleeding tests
*** Assessment of [[bleeding time]], [[platelet]] aggregation, and [[platelet]] electron microscopy are required in patients with suspected  [[Hermansky-Pudlak syndrome]] ([[HPS]])
** Evaluation of [[polymorphonuclear leukocyte]] function is required in patients with suspected [[Chediak-Higashi syndrome]] ([[CHS]])

==References==
{{Reflist|2}}

[[Category:Endocrinology]]
[[Category:Dermatology]]
[[Category:Needs content]]
[[Category:Needs overview]]

{{WS}}
{{WH}}