We have diagnosed a girl with McKusick-Kaufman syndrome (MKS) based on clinical presentation with hydrometrocolpos, polydactyly, and congenital heart disease. We want to confirm the diagnosis at the molecular level, but we do not know where to do this.
Has anyone suggestions about laboratories to perform mutational analysis of MKKS gene?
- if this is the same as bardet biedel syndrome Prof Philip Beales in researchgate is very expert and may be able to advise
Prof Beals as suggested above is an excelent expert opinion in the field. However if all you want is testing, as a reference, clinically available genetic tests can be searched on Orphanet (www.orpha.net).
http://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search.php?lng=EN&type_list=clinicalLabs_search_simple_shd&data_id=2286&Disease%28s%29/group%20of%20diseases=McKusick-Kaufman-syndrome&title=McKusick-Kaufman-syndrome&search=ClinicalLabs_Search_Simple&ChdId=2286&ClinicalLabs_ClinicalLabs_Search_diseaseGroup=MCKUSICK-KAUFMAN&ClinicalLabs_ClinicalLabs_Search_diseaseType=Pat&ClinicalLabs_ClinicalLabs_Search_country=NN&ClinicalLabs_ClinicalLabs_Search_GeographicType=null&ClinicalLabs_ClinicalLabs_Search_ClinicalLabsList_Sort=QoS
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