Albinism laboratory findings: Difference between revisions
Jump to navigation
Jump to search
Irfan Dotani (talk | contribs) No edit summary |
No edit summary |
||
| Line 1: | Line 1: | ||
__NOTOC__ | __NOTOC__ | ||
{{Albinism}} | {{Albinism}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{S.M}} | ||
{{ | |||
==Overview== | ==Overview== | ||
==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> | |||
** [[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 | |||
*** 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 is required in patients with suspicious of [[Hermansky-Pudlak syndrome]] ([[HPS]]) | |||
** Evaluation of polymorphonuclear leukocyte function is required in patients with suspicious of [[Chediak-Higashi syndrome]] ([[CHS]]) | |||
==References== | ==References== | ||
Revision as of 17:14, 20 August 2021
|
Albinism Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Albinism laboratory findings On the Web |
|
American Roentgen Ray Society Images of Albinism laboratory findings |
|
Risk calculators and risk factors for Albinism laboratory findings |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]
Overview
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
- 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 is required in patients with suspicious of Hermansky-Pudlak syndrome (HPS)
- Evaluation of polymorphonuclear leukocyte function is required in patients with suspicious of 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".