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| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Beta Globin Gene Dosage Analysis
Test Code16346
CPT Codes
81363
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
2 mL whole blood • 10 mL amniotic fluid • 10 mg chorionic villi
Other Acceptable Specimens
Whole blood collected in: Sodium heparin (green-top) tube or ACD (yellow-top) tube • 10 mL amniotic fluid collected in a sterile plastic leak-proof container • 10 mg chorionic villi collected in a sterile tube filled with sterile culture media • Cultured cells collected in each of two separate sterile T-25 flasks, 75% confluent
Instructions
Do not hold specimen; forward to laboratory when specimen arrives.
Whole blood (preferred): Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
For fetal testing:
1. Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission.
2. Documentation of parental carrier status must be provided.
3. It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.
Amniotic fluid (acceptable): Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Amniocyte or Chorionic Villus (CVS) culture (acceptable): Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.
Dissected Chorionic Villus (CVS) biopsy (acceptable): 10-20 mg dissected chorionic villi collected in sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Whole blood (preferred): Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
For fetal testing:
1. Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission.
2. Documentation of parental carrier status must be provided.
3. It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.
Amniotic fluid (acceptable): Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Amniocyte or Chorionic Villus (CVS) culture (acceptable): Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.
Dissected Chorionic Villus (CVS) biopsy (acceptable): 10-20 mg dissected chorionic villi collected in sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Transport Temperature
Room temperature
Specimen Stability
Whole blood
Room temperature: 30 days
Refrigerated: 30 days
Frozen: 30 days
Amniotic fluid, chorionic villi, cultured cells
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Room temperature: 30 days
Refrigerated: 30 days
Frozen: 30 days
Amniotic fluid, chorionic villi, cultured cells
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Do not reject
Methodology
Capillary Electrophoresis • Fluorescent PCR
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Mon; Report available: 2-3 weeks following set up
Reference Range
See Laboratory Report
Clinical Significance
Beta globin gene dosage analysis complements the sequencing-based beta globin mutation detection test in molecular diagnosis of Beta Thalassemia. It detects large deletions/duplications involving the beta globin gene.
Performing Laboratory
| Quest Diagnostics Nichols Institute-San Juan Capistrano, CA |
| 33608 Ortega Highway |
| San Juan Capistrano, CA 92675-2042 |
