Test Catalog

Test ID: ATHAL    
Alpha-Globin Gene Analysis, Varies

Method Description Describes how the test is performed and provides a method-specific reference

This test is a direct variant analysis assay. Deletions and duplications within the alpha-globin locus are identified by a multiplex ligation-dependent probe amplification assay. Fifteen probes that hybridize throughout the alpha-globin locus from the HS40 promoter region through the 3'HVR region are utilized in order to maximize the information needed to map the approximate location of nearly all DNA deletions that occur. In addition, a polymerase chain reaction-based assay is used to detect the presence of the alpha-3.7 and alpha-4.2 deletions.(Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002 Jun 15;30[12]:e57. doi: 10.1093/nar/gnf056.)

PDF Report Indicates whether the report includes an additional document with charts, images or other enriched information


Day(s) Performed Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Twice weekly

Report Available The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

8 to 12 days

Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Whole Blood: 2 weeks (if available); Extracted DNA: 3 months

Performing Laboratory Location Indicates the location of the laboratory that performs the test