Alpha-Globin Gene Sequencing

Synonyms

• ALPHA-GLOBIN GENE SEQUENCING
• ALPHAGSEQ
• LAB11564

Cerner Name

Alpha-Globin Gene Sequencing

Clinical Info

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.

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube: Lavender top tube
Alternate Specimen(s): Whole blood collected in: Sodium heparin (green-top), lithium heparin (green-top) or ACD solution B (yellow-top) • Amniotic fluid • Cultured cells • Chorionic villus sampling
Specimen: 5 mL whole blood (3 mL min)
Transport Temperature: Room Temperature

Collection Instructions
Whole blood (preferred): Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze. Amniotic fluid (acceptable): 20 mL (min 5 mL) temperature only specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze. Amniotic culture (acceptable): Sterile T25 flask, filled with culture medium. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze. Dissected chorionic villi (CVS) biopsy (acceptable): 10-20 mg dissected CVS collected in sterile tube filled with sterile culture medium. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze. Provide family history; For prenatal diagnosis with a fetal specimen: 1) Parents must be documented carriers of one of the mutations tested 2) Maternal blood or DNA must be available 3) Contact the laboratory genetic counselor before submission Provide clinical information (MCV, blood work, age, alpha globin mutations detected, ethnicity).

Specimen Volume

Transport Instructions

Room Temperature

Specimen Stability

Whole Blood (preferred)
30 Days Room Temperature or Refrigerated
All other samples
2 Days -Room Temperature only
Unacceptable Refrigerated or Frozen

Methodology

DNA Sequencing • Polymerase Chain Reaction (PCR)

Days Performed

TAT: 3-4 Weeks

Performing Laboratory

Quest Diagnostics' Nichols Institute, Inc. - Chantilly

CPT

81259
 
LOINC Code:  21687-9

PDM

1959552

Only Orderable at Locations:

Orderable Everywhere

Results

Result Interpretation

Forms