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Test Directory Alpha-Globin Common Mutation Analysis

Alpha-Globin Common Mutation Analysis

Order Code: ALPHAG

Test Summary

Alpha-Globin Common Mutation Analysis - Alpha thalassemia is an inherited blood disorder characterized by a reduced or absent production of alpha globin. The majority of people who have alpha thalassemia trait or disease will have deletions of any number of the 4 alpha globin genes. This test identifies the 7 most common deletions in the alpha globin genes. The vast majority of individuals who have an alpha globin deletion (or deletions) will be identified with this test. It is the recommended first tier genetic test for confirmation of suspected alpha thalassemia or alpha thalassemia trait. This would include couples who are pregnant or anticipating pregnancy and who have been identified as at risk via an abnormal hemoglobinopathy evaluation (CBC and HPLC). In the event of an alpha globin variant identified on HPLC, the recommended first tier test would be alpha globin gene sequencing.

Aliases

Alpha Thalassemia Gene Mutation Analysis
Alpha-Globin Gene Mutation Analysis
Thalassemia

Specimen Collection

Special Instructions

N/A

Preferred Specimen

5 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume

3 mL

Instructions

N/A

Patient Preparation

N/A

Storage

N/A

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 30 days
Refrigerated: 30 days
Frozen: 30 days

Limitations

N/A

Other Acceptable Specimens

Whole blood collected in: EDTA (royal blue-top), sodium heparin (green-top), lithium heparin (green-top), ACD-B (yellow-top) or ACD-A (yellow-top) tube

Unacceptable Specimens

N/A

Order Code

ALPHAG

EPIC (Premier) Code

LAB3096

Includes

N/A

CPT Code

81257
**This code is not available for New York patient testing. For New York patient testing
use test Code 11174.**

Billing Code

670541

CPT Statement

Methodology

Polymerase Chain Reaction (PCR)

FDA Status

This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

Testing Laboratory

Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano CA, 92675

Department

Reference Testing

Reference Range

See Laboratory Report

Setup Schedule / Expected Turnaround Time

Sunday; Report available: 7 days