Collect whole blood in a purple top (EDTA) tube. May send extracted DNA instead.
Unacceptable Conditions
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Storage/Transport Temperature
For CHOP Phlebotomy: Samples can be collected throughout the week. Samples collected on weekends or holidays are held in Central Labs and sent to the Genomic Diagnostic Lab the following business day.
For External Clients: Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday, optimally within 24 hours of collection.
Please contact the lab (267-426-1447) with questions regarding non-blood specimens.
Volume Required
5ml whole blood or 1 ug of DNA
Minimum Required
3ml
Phlebotomy Draw
Yes
Clinical Features
Autosomal recessive disease caused by deletion or inactivation of one or multiple alpha globin genes. Alpha thalassemia results in anemia, the severity of which depends upon the number of genes that are affected.
Performing Lab
Division of Genomic Diagnostics
Performed
Mon - Fri 9:00am to 4:00pm
Reported
28 days
Detection Rate
The analytical sensitivity is close to 100% for point mutations by DNA sequencing.
Utility
Confirmation of diagnosis, carrier detection, prenatal diagnosis
Synonyms
Alpha globin gene sequence analysis
HBA1 and HBA2 Sequence Analysis
HBAS
Alpha Thalassemia
LIS Mnemonic
HBAS
Available STAT
No
Test Notes
DNA sequence analysis of the Alpha 1 (HBA1) and Alpha 2 (HBA2) globin genes.
Molecular Testing Notes
HBA1, encoding Alpha 1-globin, and HBA2, encoding Alpha 2-globin, are located on chromosome 16p13.3. Deletion or inactivation of all four alpha-globin alleles results in the most severe form, Hb Bart hydrops fetalis syndrome. Deletion or inactivation of three out of four alpha-globin alleles results in HbH disease. Deletion or inactivation of two out of four alpha-globin alleles, either in cis (--/alpha, alpha) or trans (alpha, -/ alpha -) configuration, results in alpha thalassemia trait. Deletion or inactivation of one out of four alpha-globin alleles results in alpha thalassemia carrier. HbCS (Hb Constant Spring) results from the missense mutation c.427T>C in HBA2.
CPT Codes
81259
Collection
Collect
Collect whole blood in a purple top (EDTA) tube. May send extracted DNA instead.
Unacceptable Conditions
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Storage/Transport Temperature
For CHOP Phlebotomy: Samples can be collected throughout the week. Samples collected on weekends or holidays are held in Central Labs and sent to the Genomic Diagnostic Lab the following business day.
For External Clients: Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday, optimally within 24 hours of collection.
Please contact the lab (267-426-1447) with questions regarding non-blood specimens.
Volume Required
5ml whole blood or 1 ug of DNA
Minimum Required
3ml
Phlebotomy Draw
Yes
Ordering
Clinical Features
Autosomal recessive disease caused by deletion or inactivation of one or multiple alpha globin genes. Alpha thalassemia results in anemia, the severity of which depends upon the number of genes that are affected.
Performing Lab
Division of Genomic Diagnostics
Performed
Mon - Fri 9:00am to 4:00pm
Reported
28 days
Detection Rate
The analytical sensitivity is close to 100% for point mutations by DNA sequencing.
Utility
Confirmation of diagnosis, carrier detection, prenatal diagnosis
Synonyms
Alpha globin gene sequence analysis
HBA1 and HBA2 Sequence Analysis
HBAS
Alpha Thalassemia
LIS Mnemonic
HBAS
Available STAT
No
Test Notes
DNA sequence analysis of the Alpha 1 (HBA1) and Alpha 2 (HBA2) globin genes.
Molecular Testing Notes
HBA1, encoding Alpha 1-globin, and HBA2, encoding Alpha 2-globin, are located on chromosome 16p13.3. Deletion or inactivation of all four alpha-globin alleles results in the most severe form, Hb Bart hydrops fetalis syndrome. Deletion or inactivation of three out of four alpha-globin alleles results in HbH disease. Deletion or inactivation of two out of four alpha-globin alleles, either in cis (--/alpha, alpha) or trans (alpha, -/ alpha -) configuration, results in alpha thalassemia trait. Deletion or inactivation of one out of four alpha-globin alleles results in alpha thalassemia carrier. HbCS (Hb Constant Spring) results from the missense mutation c.427T>C in HBA2.
