- Patient Preparation
- Lavender (EDTA) or pink (K2EDTA). Also acceptable: Yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Characteristics: Structural hemoglobinopathies or thalassemias (insufficient or absent beta- chain production).
Incidence: Varies with ethnicity.
Inheritance: Usually autosomal recessive, infrequently autosomal dominant.
Cause: Pathogenic mutations i n 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 percent, depending upon ethnicity .
Methodology: Bidirectional sequencing of the HBB coding regions, intron-exon boundaries, proximal promoter, 5' and 3' untranslated regions, and intronic mutations IVS-II-654 , IVS-I I-705 and IVS-II-745. The 619del mutation is detected by PCR followed by gel electrophoresis.
Analytical sensitivity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Large deletions, other than 619del, and mutations in distal regulatory elements are not 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.
See Compliance Statement C: www.aruplab.com/CS
|Component Test Code*||Component Chart Name|
|0050578||Beta Globin Full Gene Sequencing|
- Beta Thalassemia