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.
Fragile X Prenatal Analysis is available for at risk pregnancies. If the maternal Fragile X Analysis was not performed in this laboratory, please include a copy of her test result.
Indications for Testing:
- Pregnancy known to be at risk for Fragile X syndrome.
OMIM: 300624
Sample requirements:
Amniotic fluid or Cultured Amniocytes
Contact laboratory genetic counselors or molecular director for specific sample requirements in advance.
Maternal blood sample is also required for Maternal Cell Contamination studies. Send 5 mL purple top (EDTA) along with prenatal sample.
Sample handling: Specimens being sent from outside facilities should be packaged according to standard medical safety practices. The specimen should never be frozen. A cold pack should be placed in the container during warm summer months. 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: 1 week
List price/CPT codes: $1195.68 / 83890, 83894 (x3), 83898 (x3), 83900, 83901 (x14), 83904 (x6), 83909 (x7), 83912
Price of testing includes Maternal Cell Contamination study.