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Start arrow Warszawa - stycz. 2004 arrow Choroby rzadko wystepujące diagnozowane w Polsce

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Choroby rzadko wystepujące diagnozowane w Polsce

Choroby rzadko występujące diagnozowane w Polsce przez laboratoria referencyjne PTGC*. (Stan na 2003)




Mukowiscydoza

Laboratoria referencyjne
  • Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa, prof. J. Bal
  • Instytut Genetyki Człowieka PAN, Poznań, prof. M. Witt
Laboratoria licencjonowane
  • Zakład Genetyki Medycznej, Katedra i Zakład Patofizjologii AM, Wrocław, prof. M. Sąsiadek
  • Katedra Genetyki, Zakład Genetyki Medycznej AM, Łódź, mgr H. Tomczyk
  • Zakład Genetyki Medycznej AM, Lublin, prof. J. Wojcierowski
  • Zakład Genetyki Medycznej Uniwersyteckiego Szpitala Dziecięcego, Kraków, dr E. Kostyk

Achondroplazja/hipochondroplazja

  • Zakład Genetyki Medycznej Uniwersyteckiego Szpitala Dziecięcego, Kraków, dr E. Kostyk

Zespół łamliwego chromosomu X

  • Katedra i Zakład Biologii i Genetyki AM, Gdańsk, lek. K. Ochman
  • Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa, prof. J. Bal

Choroba Friedreicha

  • Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa, prof. J. Bal

Głuchota DFNB1

  • Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa, prof. J. Bal
  • Katedra i Zakład Medycyny Sądowej AM, Warszawa, dr R. Płoski

Rdzeniowy zanik mięśni

  • Zakład Genetyki, Instytut Psychiatrii i Neurologii, Warszawa, dr J. Zimowski
  • Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa, prof. J. Bal

Zespoły: Pradera-Willi i Angelmana

  • Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa, prof. J. Bal
  • Zakład Genetyki Medycznej, Katedra i Zakład Patofizjologii AM, Wrocław, prof. M. Sąsiadek
  • Katedra Genetyki, Zakład Genetyki Medycznej AM, Łódź, dr Z. Helszer
  • Zakład Genetyki Medycznej, Instytut "Pomnik Centrum Zdrowia Dziecka", Warszawa, dr E. Popowska

Zespół Smitha-Lemliego-Opitza

  • Zakład Genetyki Medycznej, Instytut "Pomnik Centrum Zdrowia Dziecka", Warszawa, dr E. Popowska

Zespół Nijmegen

  • Zakład Genetyki Medycznej, Instytut "Pomnik Centrum Zdrowia Dziecka", Warszawa, dr E. Popowska

Hemochromatoza

  • Pracownia Biologii Molekularnej, II Katedra Chorób Wewnętrznych Collegium Medicum, Uniwersytet Jagielloński, Kraków, doc. M. Sanak

Choroba Huntingtona

  • Zakład Genetyki, Instytut Psychiatrii i Neurologii, Warszawa, dr A. Sułek

Atakcje rdzeniowo-móżdżkowe (SCA typu 1, 2, 3, 6, 7, 8, 12, 17)

  • Zakład Genetyki, Instytut Psychiatrii i Neurologii, Warszawa, dr A. Sułek

Rdzeniowo-opuszkowy zanik mięśni

  • Zakład Genetyki, Instytut Psychiatrii i Neurologii, Warszawa, dr A. Sułek

Dystrofia mięśniowa Duchenne'a i Beckera

  • Zakład Genetyki, Instytut Psychiatrii i Neurologii, Warszawa, dr J. Zimowski
  • Instytut Genetyki Człowieka PAN, Poznań, prof. R. Słomski

Dystrofia miotoniczna

  • Instytut Genetyki Człowieka PAN, Poznań, prof. R. Słomski

Zespół Retta

  • Katedra Genetyki, Zakład Genetyki Medycznej AM, Łódź, dr Z. Helszer

Zaburzenia cielesno-płciowe (mikrodelecje w chromosomie Y)

  • Katedra Genetyki, Zakład Genetyki Medycznej AM, Łódź, dr M. Constantinou
  • Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa, prof. J. Bal
  • Zakład Genetyki Medycznej, Katedra i Zakład Patofizjologii AM, Wrocław, prof. M. Sąsiadek

* laboratoria specjalizujące się w wykrywaniu nieprawidłowości genetycznych

 

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