| 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. |
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