Disorders


 

RPS7-Related Diamond-Blackfan Anemia


Synonym(s): Diamond-Blackfan Anemia 8

 

OMIM

GeneLocusProtein
RPS72p2540S ribosomal protein S7

Laboratory Test Method Prenatal Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA• 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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