Sideroblastic anemia screening: Difference between revisions
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{{Sideroblastic anemia}} | {{Sideroblastic anemia}} | ||
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==Overview== | ==Overview== | ||
According to The National Center for Biotechnology Information NCBI, screening for sideroblastic anemia by using one of the tests, mitochondrial focused nuclear gene panel, congenital sideroblastic anemia panel and PUS1 gene sequencing is available for, molecular confirmation of genetic sideroblastic anemia, testing of patients with positive family history of sideroblastic anemia and prenatal diagnosis for gene mutation in at-risk pregnancies. | |||
==Screening== | ==Screening== | ||
=== Tests name === | |||
According to the National Center for Biotechnology Information center, the following tests are available for screening sideroblastic anemia:<ref name="pmid18410845">{{cite journal |vauthors=Koenig MK |title=Presentation and diagnosis of mitochondrial disorders in children |journal=Pediatr. Neurol. |volume=38 |issue=5 |pages=305–13 |date=May 2008 |pmid=18410845 |pmc=3099432 |doi=10.1016/j.pediatrneurol.2007.12.001 |url=}}</ref><ref name="pmid25058219">{{cite journal |vauthors=Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF |title=Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies |journal=JAMA |volume=312 |issue=1 |pages=68–77 |date=July 2014 |pmid=25058219 |doi=10.1001/jama.2014.7184 |url=}}</ref> | |||
* Mitochondrial focused nuclear gene panel | |||
* Congenital sideroblastic anemia panel | |||
* PUS1 gene sequencing | |||
=== Clinical utility === | |||
* Molecular confirmation of genetic sideroblastic anemia | |||
* Testing of patients with positive family history of sideroblastic anemia | |||
* Prenatal diagnosis for gene mutation in at-risk pregnancies. | |||
==References== | ==References== | ||
Latest revision as of 14:23, 10 August 2018
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Sideroblastic anemia Microchapters |
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Sideroblastic anemia screening On the Web |
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American Roentgen Ray Society Images of Sideroblastic anemia screening |
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Risk calculators and risk factors for Sideroblastic anemia screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Nazia Fuad M.D.
Overview
According to The National Center for Biotechnology Information NCBI, screening for sideroblastic anemia by using one of the tests, mitochondrial focused nuclear gene panel, congenital sideroblastic anemia panel and PUS1 gene sequencing is available for, molecular confirmation of genetic sideroblastic anemia, testing of patients with positive family history of sideroblastic anemia and prenatal diagnosis for gene mutation in at-risk pregnancies.
Screening
Tests name
According to the National Center for Biotechnology Information center, the following tests are available for screening sideroblastic anemia:[1][2]
- Mitochondrial focused nuclear gene panel
- Congenital sideroblastic anemia panel
- PUS1 gene sequencing
Clinical utility
- Molecular confirmation of genetic sideroblastic anemia
- Testing of patients with positive family history of sideroblastic anemia
- Prenatal diagnosis for gene mutation in at-risk pregnancies.
References
- ↑ Koenig MK (May 2008). "Presentation and diagnosis of mitochondrial disorders in children". Pediatr. Neurol. 38 (5): 305–13. doi:10.1016/j.pediatrneurol.2007.12.001. PMC 3099432. PMID 18410845.
- ↑ Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF (July 2014). "Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies". JAMA. 312 (1): 68–77. doi:10.1001/jama.2014.7184. PMID 25058219.