Albinism laboratory findings: Difference between revisions
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==Overview== | ==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== | ==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> | *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> | ||
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*** 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 | *** 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 | ** [[Genetic sequence]] testing | ||
*** The most definite test in diagnosis of [[albinism]] | |||
*** This test is useful among individuals with familial history 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]] | *** [[Genetic testing]] can be done to determine if a fetus had [[albinism]] | ||
** Bleeding tests | ** Bleeding tests | ||
*** Assessment of bleeding time | *** 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 | ** Evaluation of [[polymorphonuclear leukocyte]] function is required in patients with suspected [[Chediak-Higashi syndrome]] ([[CHS]]) | ||
==References== | ==References== | ||
Latest revision as of 17:20, 20 August 2021
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]
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:[1][2]
- 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)
- Hair bulb assay for determination of tyrosinase activity
References
- ↑ Grønskov K, Ek J, Brondum-Nielsen K (2007). "Oculocutaneous albinism". Orphanet J Rare Dis. 2: 43. doi:10.1186/1750-1172-2-43. PMC 2211462. PMID 17980020.
- ↑ "Albinism - StatPearls - NCBI Bookshelf".