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Fragile X syndrome


Gene Reviews

Fragile X is one of the most common causes of inherited mental retardation and neuropsychiatric disease in humans. The syndrome is also known as FRAXA or the Martin-Bell syndrome.

The characteristic features of fragile X in boys includes prominent ears, a long face, delayed speech, large testes, hyperactivity, tactile defensiveness, gross motor delays, and autistic-like behaviors. Much less is known about girls with fragile X syndrome. Only about half of all females who carry the genetic mutation have symptoms.

Fragile X syndrome is due to a mutation at an inherited site on the X chromosome, and so is an X-linked disorder. Because the mutation is dynamic, it can change in severity from generation to generation, from person to person, and even within a given person.

PCR analysis across the CGG region to determine allele size. This assay is sensitive for identifying premutation alleles. Southern analysis identifies large expansions of the CGG repeat region, and determines methylation status using Eco RI.

Methodology: PCR/Southern Blot

Purpose: Confirmation of Clinical Diagnosis

ICD-10 Code Q99.2

Test Requisition: Molecular Requisition

CPT Code: 81243 Cost:$401.00 (Oklahoma Medicaid requires preauthorization for this test)

Turn-around-time: 28 days

Specimen Requirements (Buccal Swabs cannot be accepted for this test)

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Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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