What we do

Sydney Genetics is a world class laboratory offering a wide range of genetic screening and diagnostic tests. Our primary focus is Reproductive Genetics and we provide genetic testing services before, during and after pregnancy from our biochemistry, chromosome (cytogenetic) and molecular DNA laboratories.

Before pregnancy we can provide Cystic fibrosis (CF) screening and chromosome testing to identify:

• couples who may be at risk of producing babies with Cystic fibrosis.
• normal adult males with CF mutations that can be infertile due to low or absent sperm.

• couples who may have a chromosomal abnormality which may be causing difficulty in getting pregnant, repeated miscarriage, or who may have a risk for having a baby with a chromosomal abnormality.

During pregnancy our prenatal diagnosis laboratory can provide:

• first trimester screening testing for Down syndrome.
• diagnostic testing for chromosomal or specific molecular DNA genetic disorders.

After pregnancy we can perform genetic testing for the following reasons:

• thrombophilia screening which may be indicated following a miscarriage.
• identify a chromosome cause of pregnancy loss, congenital abnormality in newborns or children. If we find an abnormality you and your partner may need to be testing also to determine if it was inherited.