Free Diagnostic Service
Free diagnosis is offered in countries where this is not otherwise available
Download instructions in English, Spanish, or French.
Oxytocin in PWS - a discussion paper
Introduction to BIRD:
BIRD is an extraordinary foundation established by Mauro Baschirotto's parents after he died from an undiagnosed rare disease. He was born in 1970 to parents, Guiseppe and Anna, who, for fifteen years struggled with not knowing what his illness was, not understanding why their son was not growing, why his immune system was not protecting him and not understanding the genetic disorder would shorten his young life. Mauro died when he was 16, of what is today known as Apeced (autoimmune) syndrome. Not wishing for any parent to have to live through the same issues as they had, Anna and Guiseppe raised funds to buy an old convent outside Vicenza where they established a private laboratory for the free diagnosis of rare diseases and disorders and excellent facilities for research. By great good fortune, IPWSO's President at that time, Giorgio Fornasier, knew the Baschirotto family and was extremely encouraged by their dream, believing that it would help families where a child with PWS had not been diagnosed, particularly in countries where the ability to do such sensitive and complex DNA diagnoses was not available.
In this beautiful old convent, complete with fresco'd chapel, are well-established and well-equipped laboratories able to offer speedy free diagnosis to rare disorders such as Prader-Willi Syndrome, Apeced Syndrome, Lesch Nyhan, Krabbe disease, and Metachromatic Leukodystrophy. Outpatient care is also offered along with rehabilitation programmes. This is especially important to the families as well as the patients, bringing together small groups at a time and letting them understand they are not alone in the world.
The tests are performed on gDNA extracted from dried blood spots (DBS) on filter paper. With the exception of Prader-Willi syndrome, where the test consists of a MS-PCR, all the other tests consist in direct gDNA sequencing. All analyses are performed according to current EU guidelines maintaining very strict laboratory standards.
Special care is given to cost containment for the referring physician by selecting a widely available sampling method (DBS on filter paper) and maintaining the sample sending procedure as simple as possible (regular letter). Particular care was given to the procedure required to send samples for analysis that takes into account possible delays in the delivery, ease of collecting the biological sample and not last cost. The optimal solution determined was performing the tests on DNA extracted from dried blood spots on filter paper (detailed instructions for sending a sample for analysis can obtained by contacting us, or by downloading instructions in English, French, or Spanish).
The testing method we use, called methylation specific PCR or MS-PCR, has a sensitivity of 99% in detecting PWS and offers a very cost effective way of analyzing the samples. This test is conducted by a modification of the DNA using the sodium salt of the bisulphite ion (HSO3-). (HSO3-). This modification is sensible to methylation and only non methylated is not altered. Using specific probes for the modified DNA we are able to determine the paternal or maternal pattern of methylation in the SNRPN region analysed. The fragments corresponding to the maternal and paternal imprint are of different sizes, making it easily recognisable
Up to today, more than 500 samples sent for PWS diagnosis have been analysed from 43 countries from Asia, South America, Europe and Africa.
A paper recently published: Specific Treatment of Prader-Willi Syndrome through Cyclical Rehabilitation Programmes draws attention to the residential rehabilitation programme including diet and exercise and a multi-disciplinary approach.
IPWSO is grateful to Soleno Therapeutics for sponsoring its free diagnostic services in 2019