OUTSOURCE
THALASSEMIA BETA MUTATION DETECTION (N093)
Also Known As:
Beta Thalassemia Mutation Analysis
About This Test
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.The clinical significance of this assay is to identify disease-causing mutations in individuals affected with beta-thalassemia; to identify carriers in high-risk ethnic group or people with positive family history & for Prenatal diagnosis of beta-thalassemia.
Test Parameters (1)
- THALASSEMIA BETA MUTATION DETECTION (N093)
Home Collection
✓ Available
Reports Available In
2 Days
Preparation / Prerequisite
4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Prenatal Genetic testing consent form (Form 18) is mandatory.
Frequently Asked Questions
Outsourced test are being done from Dr. Lal Path Lab. Charges and reporting time is same as of Dr. Lal Path Labs.
Physician prescription is mandatory.
The Thalassemia Beta Mutation Detection test is important because it helps identify genetic mutations responsible for beta-thalassemia, enabling early diagnosis, carrier screening, family counseling, and informed reproductive decisions.
TAT Policy
The Turnaround Time (TAT) depends on the following factors:
- Registration date and time
- Type of scan or test
- Scan time or sample collection time
In uncommon circumstances, TAT may be delayed due to test complexity or reasons beyond our control. You will be informed of the estimated TAT at the time of registration.
