ATHAL - Overview: Alpha-Globin Gene Analysis

Test Catalog

Test Name

Test ID: ATHAL    
Alpha-Globin Gene Analysis

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosis of alpha-thalassemia

 

Prenatal diagnosis of deletional alpha-thalassemia

 

Carrier screening for individuals from high-risk populations for alpha-thalassemia

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Deletions and duplications, hemoglobin Constant Spring (HbCS), and alpha-thalassemia Saudi point mutations only.

Profile Information A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.

Test IDReporting NameAvailable SeparatelyAlways Performed
ATHLAlpha-Globin Gene Analysis (ATHL)NoYes

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
CULAFAmniotic Fluid Culture/Genetic TestYesNo
MATCCMaternal Cell Contamination, BYesNo

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Dosage Analysis by Polymerase Chain Reaction (PCR)/Multiplex Ligation-Dependent Probe Amplification (MLPA)/Luminex Technology

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Alpha-Globin Gene Analysis

Aliases Lists additional common names for a test, as an aid in searching

Alpha Globin
Alpha Thalassemia
Constant Spring
HBA1
Hemoglobin Bart
Hemoglobin-H Disease
Hydrops Fetalis
Saudi
Thalassemia, Alpha
Alpha-Thalassemia
HBA2
AGPB