Disorders


 

X-Linked Sideroblastic Anemia


Synonym(s): XLSA

 

OMIM

GeneLocusProtein
ALAS2Xp11.215-aminolevulinate synthase, erythroid-specific, mitochondrial

Laboratory Test Method Prenatal Carrier *
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Institute of Predictive and Personalized Medicine of Cancer, Advanced Genetic Diagnostic Unit for Rare Iron Metabolism Disorders (UDGAEMH) - Barcelona, Spain• Sequence analysis of the entire coding region
 

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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