Aceruloplasminemia
Research Genetic test
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GTR Test Accession: Help GTR000325759.2
INHERITED DISEASEOPHTHALMOLOGYHEMATOLOGY ... View more
Last updated in GTR: 2016-05-17
Last annual review date for the lab: 2023-08-10 LinkOut
At a Glance
Deficiency of ferroxidase
Genes (1): Help
CP (3q24-25.1)
Molecular genetic studies on iron-related disorders. As part of an …
Currently open
Not provided
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Study Description
Name: Help
Aceruloplasminemia
Study short name: Help
CP
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Molecular genetic studies on iron-related disorders. As part of an European project (ERARE-115 HMA-IRON) and a National project (Ramón Areces), we are proceeding with molecular diagnosis of rare microcytic anemias, including sideroblastic and non-sideroblastic anemias. Genes studied by complete sequencing: Sideroblastic anemias: ALAS2 (Sideroblastic Anemia X-Linked, OMIM 300751), SLC25A38 (Anemia, … View more
View citations (3)
  • Population screening for hemochromatosis: a study in 5370 Spanish blood donors. Sánchez M, et al. J Hepatol. 2003;38(6):745-50. doi:10.1016/s0168-8278(03)00123-5. PMID: 12763366.
  • Ramsay AJ, Quesada V, Sanchez M, Garabaya C, Sardà MP, Baiget M, Remacha A, Velasco G, López-Otín C. Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. Hum Mol Genet. 2009;18(19):3673-83. doi:10.1093/hmg/ddp315. Epub 2009 Jul 10. PMID: 19592582.
  • Kannengiesser C, Sanchez M, Sweeney M, Hetet G, Kerr B, Moran E, Fuster Soler JL, Maloum K, Matthes T, Oudot C, Lascaux A, Pondarré C, Sevilla Navarro J, Vidyatilake S, Beaumont C, Grandchamp B, May A. Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia. Haematologica. 2011;96(6):808-13. doi:10.3324/haematol.2010.039164. Epub 2011 Mar 10. PMID: 21393332.
Offered by: Help
Person responsible for the study: Help
Mayka Sanchez, PhD, Lab Director
Study contact: Help
Mayka Sanchez, PhD, Lab Director
Research contact policy: Help
http://www.carrerasresearch.org/en/english-procedure_38064.pdf
Recommended fields not provided:
Participation
Recruitment status: Help
Currently open
Consent form: Help
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Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Technical Information
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Additional Information

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