(CTC) Alpha-Globin Gene Sequencing

Test Code

716116

CPT Codes
*ERRO (x0) 99199

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.

Collection Instructions:
__Whole blood: Normal phlebotomy procedure. Specimen
__stability is crucial. Store and ship ambient immediately.
__Glass tubes should not be shipped frozen.
__
__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: Standard volume is two T25 flasks
__(confluent); minimum volume is one T25 flask (confluent).
__Sterile T25 flask, filled with culture medium. Specimen
__stability is crucial. Store and ship ambiently. Do not
__refrigerate or freeze.
__
__Dissected chorionic villi (CVS) biopsy: 10-20mg dissected
__CVS collected in sterile tube filled with sterile culture
__medium. Specimen stability is crucial. Store and ship
__ambient immediately. Do not refrigerate or freeze.

Minimum Volume

3 mL Whole blood

Transport Container

Whole blood
__EDTA (lavender-top) (preferred)
__ACD solution A (yellow-top)
__ACD solution B (yellow-top)
__EDTA (royal blue-top)
__Sodium fluoride (gray-top)
__PPT (White-Top) Tube

Transport Temperature

Whole blood: Room temperature preferred; Refrigerated
_acceptable; Frozen unacceptable

Specimen Stability

Whole blood
__Room temperature: 8 Days
__Refrigerated: 8 Days
__Frozen: Unacceptable

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

Wrong test indication, Wrong specimen type, Exceeds
specimen stability, Less than minimum required sample
volume, Blood samples received frozen

Methodology
Polymerase Chain Reaction, DNA Sequencing

Setup Schedule

A.M. Sets up 1 day a week.

Report Available

Reports in 21 to 28 days.

Clinical Significance

1. To identify disease-causing mutations in individuals
affected with alpha-Thalassemia.
2. To identify carriers in high risk ethnic groups or
people with a positive family history.
3. Prenatal diagnosis of alpha-Thalassemia.

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.