The Adventia B-Haemoglobinopathies Focus Panel analyzes the entire HBB coding region and intron-exon boundaries. Analysis is performed via Sanger sequencing for detection of single nucleotide variants and small insertions and deletions.
Detection rate is >75% of affected cases.
What diseases are associated with the genes tested in this panel?
Note: Testing for B-haemoglobinopathies via the Adventia Core or Comprehensive panel is performed via Target Capture Enrichment Technology utilizing Next Generation Sequencing, which yields higher detection rates. More information on the detection rates can be found on the Adventia Carrier Screening page.