THALASSEMIA BETA TRIO PRENATAL MUTATION DETECTION

This test is useful for detection of mutations in the HBB gene linked to Beta Thalassemia. This assay detects more than 100 different mutations in the Promoter region, Exon 1, IVS-I & Exon 2 and part of IVS-II OF THE HBB Gene. It also detects the deletion of 690 bp in IVS II and Exon 3. . This assay checks for maternal cell contamination in amniotic fluid.

  • Test Type:
  • Pre-test Information:
    It is mandatory to send a Signed Prenatal Consent Form (Form 18) and Genomics Clinical information form (Form 20) with the specimen.
  • Report Delivery:
    Sample by Mon 11 AM, report Friday
  • Components:
    0