Common Genetic disorders
Karyotyping (Constitutional)
FISH | Molecular genetics | NGS |
---|---|---|
XY / XX | Cystic Fibrosis | NGS Whole Exome Sequencing WES |
FMF | ||
Gaucher Disease | ||
Haemachromatosis | ||
HLA – B27 | ||
Adenomatous polyposis coli APC (MUTYH) | ||
SRY |
Karyotyping (Constitutional)
FISH | Molecular genetics | NGS |
---|---|---|
XY / XX | Cystic Fibrosis | NGS Whole Exome Sequencing WES |
FMF | ||
Gaucher Disease | ||
Haemachromatosis | ||
HLA – B27 | ||
Adenomatous polyposis coli APC (MUTYH) | ||
SRY |