Genomics Services
Beta Thalassemia
Beta Thalassemia is one of the most common blood disorders observed in Indian Subcontinent. Thalassemia is a hereditary genetic disorder in which the body makes an abnormal form of hemoglobin, a protein in red blood cells that carries oxygen. It is caused by mutations in HBB gene encoding Beta globin protein in the hemoglobin. This disorder is of two different types – Thalassemia Major and Thalassemia Minor. This disorder shows autosomal recessive inheritance pattern,if both parents are carrier of defective HBB gene it increases 25% risk of Beta Thalassemia in offspring. Standard 10 mutation analysis, HBB full gene sequencing and maternal contaminant check is also available.

Sample Type

Blood Sample: 5 ml blood in EDTA Vacutainer at 2-8°C

Saliva Sample: Min 2ml Saliva Sample or blood in pre-designed kits provided by Xcelris Labs.

Amniotic Fluid: Min.20ml of Amniotic fluid / CVS in transfer buffer in a sterile container along with Blood sample of both parents in EDTA Vacutainer.
Brochure           inquiry
Beta Thalassemia   |   Sickle Cell Anemia   |   MTHFR (Methylenetetrahydrofolate reductase)
Lactose Intolerance   |   Cystic Fibrosis (CFTR Mutation)
Biotinidase Deficiency   |   Hereditary Hemochromatosis
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