Test Description:
Submicroscopic
deletions of chromosome 15 (15q11.2) are detected by fluorescence in
situ hybridization (FISH). Deletions are identified in approximately 70
percent of Angelman syndrome patients. Clinical features associated
with Angelman syndrome can include microcephaly, seizures, severe
mental retardation, absent speech and gait ataxia, among others.
Note that a significant portion of patients with Angelman syndrome have
no deletion identifiable by FISH on chromosome 15, and may instead have
uniparental disomy (UPD) or an imprinting defect. Methylation analysis
is recommended to identify patients with UPD or imprinting defects
associated with Angelman syndrome. Information regarding methylation
analysis can be obtained from our genetics program at (517) 353-2046. |
Methods:
A
fluorescence in-situ hybridization (FISH) probe specific to the q11.2
region on chromosome 15 (D15S10) is utilized. At least 50 metaphase
cells are analyzed for deletion detection. We are also able to detect
duplications for this locus, which is associated with autism in some
individuals. This test was developed and its performance
characteristics determined by Vysis, IL as required by the CLIA 1988
regulations. The Michigan State University Clinical Cytogenetics
laboratory has established and verified the test’s accuracy and
precision. It has not been cleared or approved for specific uses by the
U.S. Food and Drug Administration. However, the FDA has determined that
such clearance is not necessary to use this test for clinical purposes.
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Specimen Requirements:
7cc
blood in sodium heparin tube. Other specimens can also be tested.
Please contact the laboratory for more information regarding specimen
requirements for non-blood samples.
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Shipping Instructions:
Ship
immediately or via overnight delivery at room temperature to the MSU
Cytogenetics Laboratory, B123 Life Sciences Bldg, East Lansing, MI
48824. For specimen transport, call 517-353-2032 or 1-877-TEST-DNA.
For specimens obtained on the weekend, call our pager at 517-229-6130.
Please leave a return phone number and our weekend staff will contact
you. |
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Turnaround Time: 7 days |
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Test CPT Code: 88271, 88273, 88291 |