Beta Globin Disorders

Order Code:  333633

CPT Codes:  81404, G0452

Indication: Carrier Screening; Clinical Diagnosis; Prenatal Diagnosis

Required Patient Information:  Ethnicity; Personal and Family History of clinical symptoms and/or previous test results (if any); For prenatal testing: LMP date or gestational age at the time of sample collection, as well as hemoglobin electrophoresis/mutation results on parents

Turn Around Time:  14 days

Specimen: Whole Blood, Amniotic Fluid, Chorionic Villi

Methodology: PCR amplification followed by bidirectional sequencing is employed to test for the presence of a mutation in all 3 exons of the β-globin (HBB) gene, as well as intron 1, the immediately flanking regions of intron 2 and the 3’ end of exon 3. This test identifies 99% of mutations reported in individuals with β-thalassemia, including the intronic mutations IVS-II-654, IVS-II-705, and IVS-II-745, and includes the most common mutations associated with sickle cell disease (hemoglobin S and hemoglobin C).

Other Requirements: A maternal blood sample is required for all prenatal specimens.

 

Sickle cell disease (HBB genotyping) Hgb S and Hgb C only 

Order Code: 217265

CPT Codes: 81401, G0452

Indication: Carrier screening, Clinical Diagnosis; Prenatal Diagnosis

Required Patient Information: Personal and Family History of clinical symptoms and/or previous test results (if any); For prenatal testing: LMP date or gestational age at the time of sample collection as well as hemoglobin electrophoresis/molecular results on parents.

Turn Around Time: 14 days

Specimen type: Whole blood, Amniotic Fluid, Chorionic Villi

Methodology: Analysis for the Hb S and Hb C alleles are performed by direct sequencing of the region encompassing codon six of the HBB gene.

Other Requirements: A maternal blood sample is required for all prenatal specimens.