HHTP - Performance: Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1 Full Gene Analysis

Test Catalog

Test Name

Test ID: HHTP    
Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1 Full Gene Analysis

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

Genomic DNA is extracted from whole blood. The ENG and ACVRL1 genes are amplified by PCR. The PCR product is then purified and sequenced in both directions using fluorescent dye-terminator chemistry. Sequencing products are separated on an automated sequencer and trace files analyzed for variations in the exons and intron/exon boundaries using mutation detection software and visual inspection.(Unpublished Mayo method)


Multiplex ligation-dependent probe amplification (MLPA) is used to detect the presence of large genomic deletions and duplications of all 15 exons of ENG and all 10 exons of ACVRL1. MLPA requires the hybridization of 2 adjacent probes to each exon; these probes are then amplified by PCR. Deletions are seen as decreased signal relative to control probes arising from the deleted exon(s), while duplications result in increased signal.(Package insert: SALSA MLPA Kit P093-B1 HHT/PPH1, MRC Holland)

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


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


Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.

10 days

Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result

15 days

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

2 months (extracted DNA only is saved)

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