GTR Home > Tests > Congenital Dyserythropoietic Anemia Type IV

Overview

Test name

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Congenital Dyserythropoietic Anemia Type IV (kLF1)

Purpose of the test

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Contribute to generalizable knowledge

Condition

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1 condition tested. Click Condition tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.

Genes

Description of study

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Molecular Genetic studies on iron-related disorders. As part of a 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 that are studied by complete sequencing for sideroblastic anemias: ALAS2 (SIDEROBLASTIC ANEMIA X-LINKED, OMIM 300751) SLC25A38 (ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, OMIM 205950) GLRX5 (ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, OMIM 205950) ABCB7 (ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT, OMIM 301310) STEAP3 (SIDEROBLASTIC ANEMIA ASSOCIATED TO STEAP3 MUTATIONS)|Genes that are studied by complete sequencing for non-sideroblastic anemias: Atransferrinemia, gene TF (ATRANSFERRINEMIA, OMIM 209300) Aceruloplasminemia, gene CP (OMIM 604290) Iron refractory iron-deficiency Anemia, IRIDA, gene TMPRSS6 (OMIM 206200) Familiar microcytic hypochromic anemia with hepatic iron overload, gene SLC11A2 (DMT1) (ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD, OMIM 206100)|Genes that are studied by complete sequencing for dyserythropoietic congenital anemias: Anemia dyserythropoietic congenital type 1, gene CDAN1 (OMIM 224120) Anemia dyserythropoietic congenital type 2, gene SEC23B (OMIM 224100) Anemia dyserythropoietic congenital type 4, gene KLF1 (OMIM 613673)

Researchers

Person responsible for the studyHelpMayka Sanchez, PhD, Lab Director
Study contactHelpMayka Sanchez, PhD, Lab Director, msanchez@carrerasresearch.org, +34 935543077 (phone)

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