Fragile X Syndrome is the most common inherited form of mental retardation. Affecting primarily males, this condition may also present with learning disabilities, behavioral problems, autism, or seizures. Other common features include a long face with a prominent jaw, large or protruding ears, a large head, large testicles in post-pubertal males, joint hyper-extensibility, and mitral valve prolapse. Fragile X syndrome is caused by expansion of the FMR1 gene CGG triplet repeat. The molecular portion of the panel includes both PCR and Southern blot to assess for size of the CGG triplet repeat and methylation. Due to the number of chromosome abnormalities which mimic the symptoms of Fragile X and are detected in patients referred for Fragile X testing, Blood Chromosome Analysis is performed simultaneously unless it has been performed prior or the molecular analysis is ordered as an individual test. Please include a copy or statement regarding the chromosome analysis result if the testing was performed elsewhere.
Indications for Testing:
- Confirmation of clinical diagnosis
- Autistic –like behaviors and other behavioral problems
- Family history of unexplained mental retardation or autism, especially showing a preponderance of affected males
- Carrier testing
- Premature ovarian failure
OMIM Number: 300624
Sample Requirements:
- Infants: 2-3 mL whole blood in purple top EDTA tube and 2-3 mL whole blood in a green top (Sodium Heparin) tube
- Children (>2 years) and Adults: 5-7 mL whole blood in purple top EDTA tube and 5-7 mL whole blood in a green top (Sodium Heparin) tube
Sample Handling: Blood samples stored overnight should be refrigerated or kept cold. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged with a cold pack according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday AM at the latest].
Shipping Address: Center for Human Genetics Laboratory
10524 Euclid Ave, 6th Floor
Cleveland, OH 44106
216-983-1134
For local samples, please call the Center for Human Genetics Laboratory (216-983-1134) to arrange for sample pick-up.
Turn Around Time: 14-21 days
List Price/CPT codes:
Fragile X Molecular Analysis $234.86 / 83890, 83892 (x2), 83894, 83896, 83897, 83898, 83909, 83912 (x2)
Blood Chromosome Analysis $757.91 / 88230, 88261, 88280, 88289