ARUP's Laboratory Test Directory
| 0050578: Beta Globin (HBB) Sequencing |
![[ image for: Patient History for Hemoglobinopathy]](icon_39.jpg){kind=icon} | Patient History for Hemoglobinopathy |
| Test Mnemonic: BGSEQ | |
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Methodology: Polymerase Chain Reaction/DNA Sequencing
Performed: Mon, Wed Reported: 5-10 days |
| Specimen Required: | |
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Collect: One 3 mL lavender (EDTA) or pink (K2EDTA). Also acceptable: yellow (ACD Solution A or B).
Transport: 3 mL whole blood at 2-8°C. (Min: 1 mL) Pediatric Collection/Transport: 1 mL whole blood at 2-8°C. Stability: Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable |
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| Reference Interval: |
| Normal: This sample has a normal sequence of the b-globin gene. No mutations were identified within the b-globin coding region, the intron/exon splice site boundaries or intronic positions IVS-II 654, IVS-II 705, and IVS-II 745. Gene deletions or mutations causing thalassemias or hemoglobinopathies outside of these regions will not be identified. |
| Interpretive Data: | |
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Background Information: Characteristics: Mutations can result in b+ or b thalassemias (insufficient or absent beta chain production, respectively) as well as structural hemoglobinopathies. Incidence: Varies with ethnicity. Inheritance: Usually autosomal recessive, infrequently autosomal dominant. Cause: Mutations in the HBB gene. Mutations tested: The complete protein coding sequence with exon/intron boundaries, proximal promoter, 5' and 3' untranslated regions, and intronic mutations IVS-II-654, IVS-II-705 and IVS-II-745 and the 619del common in the Asian Indian population. Clinical Sensitivity: Up to 97%, depending upon ethnicity. Methodology: PCR amplification followed by bidirectional sequencing. For 619del, PCR followed by gel electrophoresis. Analytical sensitivity: 99% Limitations: Specificity may be compromised by rare primer site mutations. Large-scale deletions or mutations in distal regulatory elements, such as the locus control region, will not be detected. This test is performed pursuant to an agreement with Roche Molecular Systems, Inc. Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com. Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory. |
| CPT Code(s): | |
| 83890 Isolation; 83898 x3 Amplification; 83894 Gel electrophoresis; 83904 x3 Sequencing; 83909 Separation Capillary electrophoresis; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders. |