Расширен перечень анализов, проводимых при диагностике пятидесяти пяти заболеваний:

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Расширен перечень анализов, проводимых при диагностике пятидесяти пяти заболеваний:

Абиотрофия сетчатки белоточечная                                                                                              

Абиотрофия сетчатки, тип Франческетти                                                                                                              

Аксенфельда-Ригера синдром                                                                                                          

Альбинизм глазной                                                                                                                 

Альбинизм глазокожный                                                                                                                    

Альстрема синдром                                                                                                               

Амавроз Лебера                                                                                                                   

Аритмогенная дисплазия /кардиомиопатия правого желудочка

Атрофия зрительного нерва                                                                                                             

Атрофия зрительного нерва с глухотой                                                                                                             

Беста болезнь                                                                                                              

Бранхиооторенальный синдром                                                                                                                    

Бругада синдром                                                                                                                       

Вильсона-Коновалова болезнь                                                                                                                       

Галлервордена-Шпатца болезнь                                                                                                             

Гемофилия                                                                                                                 

Гиперкалиемический периодический паралич                                                                                                        

Гиперфенилаланинемия с дефицитом тетрагидробиоптерина                                                                      

Гипокалиемический периодический паралич                                                                                                          

Глаукома врожденная                                                                                                          

Глаукома ювенильная открытоугольная                                                                                                                       

Дилятационная кардиомиопатия                                                                                                                    

Дистрофия роговицы                                                                                                               

Идиопатическая желудочковая тахикардия.                                                                                                              

Катаракта                                                                                                                       

Короткого интервала QT синдром                                                                                                                  

Макулярная дистрофия                                                                                                                     

Микрофтальм изолированный                                                                                                                       

Микрофтальм с катарактой                                                                                                                 

Миотония Томсена/Беккера                                                                                                               

Муковисцидоз                                                                                                           

Мышечная дистрофия поясноконечностная                                                                                                              

Наследственный ангионевротический отек                                                                                                          

Нейромиотония и аксональная нейропатия                                                                                                           

Нейросенсорная несиндромальная тугоухость                                                                                                         

Нормокалиемический периодический паралич                                                                                     

Нунан синдром             

Палочко-колбочковая дистрофия                                                                                                                    

Парамиотония Эйленбурга                                                                                                                  

Пендреда синдром                                                                                                                  

Пигментная дегенерация сетчатки                                                                                                                  

Поликистоз почек                                                                                                                   

Полногеномные исследования и панели                                                                                                                     

Ретиношизис                                                                                                               

Семейная пароксизмальная фибрилляция желудочков                                                                      

Синдром LEOPARD                                                                                                                    

Слабости синусового узла синдром                                                                                                              

Спастическая параплегия Штрюмпеля                                                                                                                         

Стиклера синдром                                                                                                                   

Туберозный склероз                                                                                                               

Удлиненного интервала QT синдром                                                                                                             

Фокально-кортикальная дисплазия Тейлора                                                                                                              

Штаргардта болезнь                                                                                                               

Эпилепсия прогрессирующая миоклоническая                                                                                       

Гемохроматоз