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 Type
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).
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
