Disorders

RPS19-Related Diamond-Blackfan Anemia

Synonym(s): Blackfan-Diamond Syndrome, Congenital Hypoplastic Anemia of Blackfan and Diamond, Diamond-Blackfan Anemia 1

OMIM

Gene	Locus	Protein
RPS19	19q13.2	40S ribosomal protein S19

Laboratory	Test Method	Prenatal	Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain

^* 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.