Hereditary Spherocytosis type 5 (EPB42) sequencing, whole blood

New Test in NOÛS Catalog

Test Code: 5097

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Delivery term:	45 days
Information:
Hereditary Spherocytosis is a haemolytic anaemia resulting from anomalies in the proteins of the erythrocyte membrane. Prevalence of this disease is around 1 out of every 5,000 in the white race population of northern Europe. The clinical signs of this disease are usually more severe during the first year of life, with 65% of the patients diagnosed during the neonatal period. Jaundice is the first clinical manifestation in neonates, with severe anaemia that is developed in the first days of life, splenomegaly is usual. The age of onset and the severity are highly variable. In most of the cases the transmission is hereditary in an autosomal dominant manner but in 25 to 30% of the cases, no haematological anomaly is detected in either of the parents. The identification of partial deficiencies in the proteins of the erythrocyte membrane has led to the classification of the hereditary spherocytosis and to the selection of diverse candidate genes. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia.

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