Synonyms
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Allscripts (AEHR) Order Name
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Alpha-Globulin Gene Sequencing
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Sunrise Clinical Manager (SCM) Order Name
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Alpha-Globin Gene Sequencing
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EPIC Order Name
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Alpha-Globin Gene Sequencing
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Clinical Info
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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.
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Specimen Type
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Container
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Lavender Top Tube
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Collection Instructions
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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).
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Transport Instructions
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Room Temperature
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Specimen Stability
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Whole Blood (preferred)
30 Days Room Temperature or Refrigerated
All other samples
2 Days -Room Temperature only
Unacceptable Refrigerated or Frozen
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Methodology
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DNA Sequencing • Polymerase Chain Reaction (PCR)
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Days Performed
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TAT: 3-4 Weeks
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Performing Laboratory
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Quest Diagnostics' Nichols Institute, Inc. - Chantilly
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CPT
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81259
LOINC Code: 21687-9
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PDM
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1959552
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Result Interpretation
See Laboratory Report
Report available 21 Days Performed on Wednesdays
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Forms
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