Beta‑Globin Gene Dosage Analysis
Also known as: Beta-Globin Deletions, Beta-Globin Duplications, HERED Persist of Fetal HB (Deletional), HPFH (Deletional), Deletional HERED Persist of Fetal HB
Use
Detects deletions or duplications in the β‑globin (HBB) gene that may not be identified by sequencing alone, useful in patients with suspicion of β‑thalassemia where sequencing is negative or in cases such as discordant parental genotypes or more severe anemia suggesting gene dosage abnormalities.
Special Instructions
If amniotic fluid or chorionic villi sampling (CVS) are submitted, an additional charge will apply for cell culture work (CPT code 88235) unless already ordered. For fetal specimens, please call 1‑866‑GENE‑INFO (1‑866‑436‑3463) prior to submission.
Limitations
Not provided.
Methodology
Other
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Other tests from different labs that may be relevant