Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Sideroblastic anemia screening
Introduction
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:[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
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Nazia Fuad M.D.