Molecular Genetic Testing
Fragile X Syndrome

Indication and Diagnostic Value

The FraX Syndrome represents the most abundant form of a genetic disease associated with mental retardation.
Approximately 1 of 880 individuals in the general population is affected. Clinical phenotype consists of dysmorphic features and enlargement of the testes in adults. To draw diagnosis based on clinical symptoms early after birth is difficult. Later in childhood the disorder more clearly manifests by attention deficit, hyperactivity, poor eye contact or rapid speech with stuttering. Also increased head circumference or hypotonia can be found.

Both genders may develop the disease. However, if the mutant gene is inherited by the mother, the risk is much higher.

An increased number of trinucleotide repeats (CGG copies) in a gene designated as FMR1 underlies the disease. Patients showing more than 200 copies are clearly affected by Fragile X Syndrome. The test determines this copy number.

Samples and Test Method

5 - 10 ml of fresh EDTA blood (NO BLOOD STAIN PAPER) are required. The CGG copy number will be estimated by PCR followed by by Southern blotting.

Turnaround time for this test is 3 weeks.

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