Perimän tutkimukset ja harvinaissairauksien diagnostiikka
Harvinaissairauksien diagnostiikassa eli sairauden määrittelyssä on useita haasteita. Geneettiset tutkimusmahdollisuudet ovat kehittyneet valtavasti viime vuosina, ja ne ovatkin yhä merkittävämpi osa diagnostiikkaa.
![](https://images.eu.ctfassets.net/iikl9zq7hmux/0FAC77A2B08A23787A70C52B9590CC2F/838de788fa788574ebabf1cd253f13ff/37848269-young-female-professional-doctor-physician-consulting.jpg?fm=jpg&q=75&fit=fill&w=3840&h=2560)
![](https://images.eu.ctfassets.net/iikl9zq7hmux/B1816E9D659A8F800FD722CEA2230514/7e6a5f8b981924e3f3ac38fed74ab7c4/16081546-dna-test-sanger-sequencing.jpg?fm=jpg&q=75&fit=fill&w=3806&h=4000)
![](https://images.eu.ctfassets.net/iikl9zq7hmux/C67B19CE4DABE0B1EAF3A1820968ABF2/b90cf674103b011a56d948b866196bc4/38024301-male-doctor-consult-female-patient-in-hospital.jpg?fm=jpg&q=75&fit=fill&w=3840&h=2560)
![](https://images.eu.ctfassets.net/iikl9zq7hmux/6EB9ECBD87F3CFED542D0B57B945FED6/1d3c03bf1aaf92d8dad9b6bc917ee33b/43567897-medical-research-with-multi-channel-pipette-in-hospital.jpg?fm=jpg&q=75&fit=fill&w=3840&h=2560)
![](https://images.eu.ctfassets.net/iikl9zq7hmux/6831EC467E5388918B365A12EA80EDBE/eec12978ed9fe87b93a2cf7acbfd3eb1/31507163-scientist-analyzes-dna-gel.jpg?fm=jpg&q=75&fit=fill&w=3840&h=2564)
![](https://images.eu.ctfassets.net/iikl9zq7hmux/A7B0C1AE0FF832C9E86DA70AFF778209/8c7dc023e7f215179ea9917515a6f84d/16273257-dna-genetic-engineering.jpg?fm=jpg&q=75&fit=fill&w=3840&h=2688)
![](https://images.eu.ctfassets.net/iikl9zq7hmux/0A57CD89011181E111E636C5B223C455/c962f38fc7952bc8d16b79be26e63db0/28679948-portrait-of-a-female-researcher-doing-research-in-a-lab.jpg?fm=jpg&q=75&fit=fill&w=3840&h=2560)
![](https://images.eu.ctfassets.net/iikl9zq7hmux/6B9EFFF2E4113AE9FCEF25DC9FF44C62/3a8490d9674507afb8d75b58f522c966/58476370-family-beach-portrait-child-on-shoulder-and-dad-mom.jpg?fm=jpg&q=75&fit=fill&w=3840&h=2481)