Sideroblastic anemia screening
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Sideroblastic anemia Microchapters |
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Diagnosis |
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Treatment |
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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 medical genetics, 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
- Mitochondrial focused nuclear gene panel[1]
- 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
- ↑ 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.