(CTC) Beta Globin Gene Dosage Analysis

Test Code

716346

CPT Codes
81403<br /> **For New York patient testing, use test code 16347**

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.

Preferred Specimen

5 mL whole blood collected in an EDTA (lavender-top),ACD (yellow-top), Sodium heparin (green-top) or Lithium heparin (green-top) tube

Minimum Volume

2 mL Whole blood

Instructions

Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship ambient immediately. Do not freeze. For prenatal diagnosis parental results must be available. Contact the laboratory genetic counselor before submission.
Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze.
Amniocyte culture: Two sterile T25 flasks, filled with culture medium. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze.
Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in sterile tube filled with sterile culture medium or two sterile T25 flasks. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 8 Days
Refrigerated: 8 Days
Frozen: Unacceptable

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Samples received frozen

Methodology
Fluorescent PCR • capillary electrophoresis

Setup Schedule

Night Sets up 1 day a week.

Report Available

Reports in 14 days.

Clinical Significance

To identify disease causing mutations in individuals affected with beta-thalassemia. To identify carriers in high risk ethnic groups or people with a positive family history. Prenatal diagnosis of beta-thalassemia. To identify mutations in individuals when beta globin sequencing has failed to find mutations.

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.