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Fragile X syndrome is a common X-linked genetic condition and the most common heritable form of intellectual disability.
ARUP Consult®, a free source of expert guidance in laboratory testing, has released updated resources on testing for fragile X (FMR1)-associated disorders. July 22 is Fragile X Awareness Day, and the National Fragile X Foundation considers the month of July Fragile X Awareness Month.
Fragile X syndrome (FXS) is a common X-linked genetic condition and the most common heritable form of intellectual disability (ID). Other features of FXS may include autism spectrum disorder, attention-deficit/hyperactivity disorder (ADHD), perseverative speech, anxiety, poor eye contact, hand flapping or biting, seizures, craniofacial differences, hypotonia, sleep disorders, and connective tissue anomalies.
Other disorders associated with variants in the FMR1 gene include fragile X-associated primary ovarian insufficiency, fragile X-associated tremor ataxia syndrome, and fragile X-associated neuropsychiatric disorders, which may include addictive behavior, adult ADHD, anxiety, or depression.
FMR1 variant testing entails the use of multiple laboratory techniques to assess allele size and methylation status. The ARUP Consult topic discusses FMR1 structure-function relationships and the utility of triple repeat-primed polymerase chain reaction (PCR) and methylation-specific PCR.
Patti Krautscheid, MS, LCGC, ARUP’s genetic counselor lead, said ARUP offers a comprehensive genetic testing menu for inherited diseases, which includes carrier screening for FXS, fetal testing for FXS, and diagnostic testing for FMR1-associated conditions.
“Providers from numerous medical specialties may find this ARUP Consult entry helpful because of the variety of conditions associated with the FMR1 gene. When a child is diagnosed with FXS, other family members may be identified as at-risk for FMR1-associated conditions, or as having symptoms of an FMR1-associated condition that were not previously recognized as being related to FMR1,” Krautscheid said.
ARUP Consult is a web-based laboratory test selection tool that provides point-of-care diagnostic and interpretive information to clinicians. The FXS resource and other ARUP Consult offerings summarize current clinical practice guidelines, testing strategies, and relevant technical details and are updated regularly and tailored to practicing clinicians to help them choose the right test at the right time.
A free educational resource, ARUP Consult is funded entirely by ARUP Laboratories. ARUP medical directors, who are active faculty members at the Spencer Fox Eccles School of Medicine at the University of Utah and its Department of Pathology, review and contribute to the content on ARUP Consult.
Users may subscribe to receive monthly emails about updates and additions to ARUP Consult. ARUP also welcomes feedback and suggestions via the Feedback page on arupconsult.com.
Read more about Fragile X Awareness Month from the National Fragile X Foundation here.
Bonnie Stray, bonnie.stray@aruplab.com
