Why get tested?

The test is proposed to determine the carrier status in relatives of affected individuals and in the partner of those who were found to be carriers for the purposes of family planning.

What the test detects

Test that aims to search for the presence of pathogenetic variants in the HBB gene, responsible for beta thalassemia.

What variants cause

Variants in HBB make it possible to determine the carrier status of beta thalassemia which is an autosomal recessive inherited disease, i.e. when both copies are altered, thalassemia major can occur (with a more severe clinical picture) or thalassemia intermedia (a milder form of thalassemia), while when only one copy of the gene is altered, you have the condition of a healthy carrier (no symptoms, or very mild symptoms).

How testing works

The genetic test consists in performing a blood sample, in the extraction of genomic DNA and in the analysis of the entire coding sequence and related exon / intron junctions of the HBB gene by Sanger sequencing.

Reporting time

Results in 15 working days.

Sensitivity and specificity

Analytical sensitivity and specificity > 99%.

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