Hereditary spherocytosis (ANK1) sequencing, whole blood

New Test in CIC Catalog

Test Code: 4393

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	45 days
Information:
Hereditary spherocytosis, is an hemolytic anemia consequence of abnormal proteins in the erythrocyte membrane. The prevalence of this disease is about 1 in 5,000 in the Caucasian population of northern Europe. The clinical signs of this disease are usually more severe during the first year of life, with 65% of patients diagnosed in the neonatal period. Jaundice is the first clinical manifestation in infants with severe anemia that develops in the first few days of life, splenomegaly is usual. The age of onset and severity vary widely. Most (60 to 70%) of patients with hereditary spherocytosis presents a moderate anemia as a result of incomplete cíaompensación hyperhemolysis. In the absence of jaundice, and in cases in which there is identified splenomegaly, it may not detect disease.In most cases, the transmission is inherited in an autosomal dominant (eg, mutations ANK1) but by 25 to 30% of cases not detected hematologic abnormality in either parent.
Links:
OMIM Entry - # 182900 - SPHEROCYTOSIS, TYPE 1; SPH1
Orphanet- Hereditary spherocytosis
OMIM Entry - - 612641 - ANKYRIN 1; ANK1

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