Additional information

Laboratory

Exult Diagnostics, Dr. Lal PathLabs, Oncquest Labs, Pathkind Labs

Reviews

There are no reviews yet.

Be the first to review “THALASSEMIA BETA MUTATION ANALYSIS”

Your email address will not be published. Required fields are marked *

THALASSEMIA BETA MUTATION ANALYSIS

 5500 7250

EX1947      THALASSEMIA BETA MUTATION ANALYSIS
Specimen: 4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
Stability:
Room Refrigerated Frozen
6 hrs 1 week NA
Method: PCR Sequencing
Comment: Samples received on holidays will be reported in the next schedule/next working day.
Report: Contact us to know the TAT.
Usage: This test is useful for the 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 essay is to identify disease-causing mutations in individuals affected with beta-thalassemia; to identify carriers in a high-risk ethnic group or people with positive family history & for Prenatal diagnosis of beta-thalassemia.
Doctor Specialty: Hematologist
Disease: Genetic disorders
Components: More than 100 mutations tested
Courier Charges: 0.00
Home Collection: Available (*T&C Apply)
Department: MOLECULAR DIAGNOSTICS
Pre Test Information: It is mandatory to send a Signed Genomics Clinical information form with the specimen.