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Beta Thalassemia (Sequencing and Deletion/Duplication Analysis)

Order Code
8140985
CPT
81404
Test Details
TAT

16 days

Methodology

DNA Sequencing and Multiplex Ligation Probe Amplification (mLPA)

Performing Location

Accredited NRL Laboratory

Testing Frequency

Once a week

Test Overview

Combined sequencing and deletion/duplication analysis of beta-globin gene; comprehensive diagnosis of beta-thalassemia.

Specimen Type

Whole Blood, DNA is also accepted

Volume

5-7 mL whole blood OR DNA ≥ 100 µL [25 - 50 ng/µL]

Specimen Container

Lavender-top (EDTA) tube or yellow-top (ACD) tube

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.

Specimen Stability
Temperature Period
Refrigerated 30 days
Order Code
8140985
CPT
81404
Test Details
TAT

16 days

Methodology

DNA Sequencing and Multiplex Ligation Probe Amplification (mLPA)

Performing Location

Accredited NRL Laboratory

Testing Frequency

Once a week

Test Overview

Combined sequencing and deletion/duplication analysis of beta-globin gene; comprehensive diagnosis of beta-thalassemia.

Specimen Type

Whole Blood, DNA is also accepted

Volume

5-7 mL whole blood OR DNA ≥ 100 µL [25 - 50 ng/µL]

Specimen Container

Lavender-top (EDTA) tube or yellow-top (ACD) tube

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.

Specimen Stability
Temperature Period
Refrigerated 30 days