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Test Catalog

Test ID: FBP1    
15q Deletion, Type I and Type II Characterization, Prader-Willi/Angelman Syndromes, FISH

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

The detection of deletions associated with type I PWS or AS is based on FISH analysis of the 289D12 and SNRPN region on chromosome 15. Ten metaphase cells from peripheral blood cultures are examined for the presence or absence of the 289D12 locus and SNRPN region along with a 15qter control probe signal. Type 1 deletion are reported when deletion of 289D12 and SNRPN are detected on the same chromosome 15 homolog. Type II deletions are interpreted when deletion of 289D12 but not SNRPN is observed on the same chromosome 15 homolog.(Butler MG, Bittel DC, Kibiryeva N, et al: Behavioral differences among subjects with Prader-Willi syndrome and type 1 or type 2 deletion and maternal disomy. Pediatrics 2004 Mar;113:565-573; Wong KK, deLeeuw RJ, Dosanjh NS, et al: A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 2007 Jan;80[1]:91-104)

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.

Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m.-5 p.m. CST.

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.

7 days

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

10 days

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

Amniotic Fluid: Any remaining supernatant or whole fluid aliquots are discarded 14 days after results are reported.; Chorionic Villi: Discarded at the time results are reported.; Blood: 3 weeks; Skin Biopsy: Discarded at time results are reported

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