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Superscreen™ – 21 syndromes

 

Superscreen™ – 21 syndromes. This screening test uses a technique known as MLPA (Multiplex Ligation-dependent Probe Amplification) to exclude the 21 most common microdeletion syndromes found in man, including Di George, Prader-Willi/Angelman’s, Williams, Smith Magenis and others.  Most of these syndromes are not visible down the microscope and will not be detected by the G-banded karyotype. All of the syndromes detected by this test are associated with an abnormal phenotype and variable degrees of mental retardation (view complete list of syndromes).

syndrome

 

The result is usually available in 14-18 days (sooner if we receive a DNA sample from cultured cells).

 

To whom is this test recommended? The syndromes detected by this test account for approx. 10% of all cases of mental retardation detected postnatally. Together with QF-PCR and the G-banded karyotype, our Superscreen™ will rule out the majority of well described genetic syndromes and will offer extra peace of mind for the remainder of the pregnancy. We therefore recommend this test to everyone. The cost of this test is approx. 200 €.

 
   
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