MOLECULAR STUDY - DIAMOND BLACKFAN ANEMIA (RPL5,RPS1O,RPL11,RPL35A,RPS26,RPS24,RPS17,RPS7) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4044

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	35 days
Information:
Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia. The anemia is discovered early in life, usually within the first 2 years; diagnosis after 4 years of age is very unlikely. Pallor and dyspnea, especially during feeding or while sucking, are the principal warning signs. Pallor is isolated, without organomegaly, signs suggestive of hemolysis or involvement of other hematopoietic cell lines. Over half of all DBA patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Pregnancies in DBA-affected women are now identified as high-risk, for both mother and child. DBA patients may also be at a higher risk of leukemia and cancer. DBA is inherited as an autosomal dominant trait with variable penetrance. At present, disease-causing mutations are identified in 40-45% of patients. All involved genes code for ribosomal proteins (RPs) from either the small (RPS7, RPS17, RPS19, RPS24) or the large (RPL5,RPL11, RPL35a) ribosomal subunit. Mutations in RPS19, RPL5 and RPL11 are found in 25%, 9% and 6.5% of patients respectively, whereas the other genes are each involved in only 1 to 3% of cases. The only clear genotype/phenotype correlation made so far is the frequent occurrence of craniofacial abnormalities in RPL5 andRPL11 mutation carriers and the rarity of these anomalies in RPS19 mutation carriers.
Links:
Orphanet- Blackfan Diamond disease Blackfan Diamond anemia
OMIM Entry - # 612563 - DIAMOND-BLACKFAN ANEMIA 8; DBA8
OMIM Entry - - 180468 - RIBOSOMAL PROTEIN L35A; RPL35A
OMIM Entry - - 180472 - RIBOSOMAL PROTEIN S17; RPS17
OMIM Entry - - 602412 - RIBOSOMAL PROTEIN S24; RPS24
OMIM Entry - - 603632 - RIBOSOMAL PROTEIN S10; RPS10
OMIM Entry - - 603634 - RIBOSOMAL PROTEIN L5; RPL5
OMIM Entry - - 603701 - RIBOSOMAL PROTEIN S26; RPS26
OMIM Entry - - 604175 - RIBOSOMAL PROTEIN L11; RPL11

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