#ExistInterpData>Background Information Beta Globin (HBB) Sequencing, Fetal:
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 in the HBB gene.
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-II-705 and IVS-II-745. The 619del mutation is detected by PCR followed by gel electrophoresis.
Analytical sensitivity: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer site mutations. Large deletions, other than 619del, and mutations in distal regulatory elements are not detected.
For quality assurance purposes, ARUP Laboratories will confirm the above result at no charge following delivery. Order Confirmation of Fetal Testing and include a copy of the original fetal report (or the mother's name and date of birth) with the test submission. Please contact an ARUP genetic counselor at (800) 242-2787 extension 2141 prior to specimen submission.
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
||81404; Fetal Cell Contamintaion (FCC): 81265;