Test Description:
Autism
is etiologically heterogeneous. A percentage of individuals who present
with autism are found to have an abnormality that can be detected via
high-resolution chromosome analysis, SNRPN duplication analysis,
subtelomere analysis, or molecular analysis for fragile X syndrome.
Please note that a number of other genetic conditions may also present
with autism or autistic-like features. Most cases of autism are
considered idiopathic. |
Methods:
High
resolution metaphase cells (band resolution of 630 or higher) are
analyzed during this study.
To analyze subtelomeres, a multi-probe FISH test for subtelomeric
integrity is performed using the Telvysion telomeric probe set, from
Vysis, IL. The probe set involves 15 separate FISH probe mixtures,
analyzing 5 or more metaphase cells from each mixture. This tests the
subtelomeres on the short (p) and long (q) arms of all the chromosomes
individually, with the exception of the p arm subtelomeres of the
acrocentric chromosomes (13, 14, 15, 21, and 22); deletions of the p
arms of these chromosomes are generally not deleterious.
Rearrangements, deletions and duplications may be identified via
testing.
A fluorescence in-situ hybridization (FISH) probe specific to the q11.2
region on chromosome 15 (SNRPN, supplied by Vysis, IL) is utilized for
this study. At least twenty metaphase cells are analyzed for
duplication detection. We are also able identify deletions for this
locus, which are associated with Prader-Willi and Angelman syndromes.
These tests were developed by Vysis, IL. The Michigan State University
Clinical Cytogenetics laboratory has established and verified the
tests’ accuracy and precision as required by the CLIA 1988 regulations.
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. The
fragile X syndrome analysis is performed through the MSU DNA
laboratory. Please see methods under Fragile X separately. |
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. |