RPS19 Sequencing

Test Background

Patients with Diamond-Blackfan anemia (DBA) usually present in infancy with hypoplastic anemia and macrocytosis. Approximately 50% of patients have congenital malformations including anomalies of the thumb and/or upper limbs and congenital heart malformations. About 30% have delayed growth. Patients with DBA are at increased risk of developing leukemia. Most cases (55-60%) of DBA are sporadic, while 40-45% of cases are familial. Most familial cases show an autosomal dominant inheritance pattern. Approximately 25% of patients with DBA have a mutation in the gene encoding ribosomal protein S19 (RPS19), 2% have a mutation in the gene encoding ribosomal protein S24 (RPS24), 6.6% have a mutation in the gene encoding ribosomal protein L5 (RPL5), and 4.8% have a mutation in the gene encoding ribosomal protein L11 (RPL11). This laboratory performs Sanger sequencing of the RPL11 gene, the RPL5 gene, the RPS19 gene, and the RPS24 gene.

Disorder(s)

Diamond-Blackfan anemia (DBA)

Gene(s)

RPS19

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.