Diagnostic Tests
A diagnostic test identifies with high accuracy whether a disorder or disease is actually present.
Prenatal Diagnosis:
A prenatal diagnosis test is performed if there is an increased risk for a chromosome or gene disorder in your baby. The test requires an invasive sampling procedure performed by your doctor, or specialist. A chorionic villus sampling (CVS) of the placenta is typically performed bewteen ~11 and 13 weeks pregnancy in the first trimester. Amniocentesis to sample amniotic fluid is typcially performed from 15 weeks onwards in the second trimester. From either CVS or amniotic fluid samples we can perform perthe following prenatal test:
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Fetal chromosome (karyotype) testing can be performed on chorionic villus (placental) and amniotic fluid material.
This image shows a karyotype from a pregnancy affected by trisomy 21, or Down syndrome.
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This image shows the typical results from molecular DNA testing for the most common mutation (delta F508) for Cystic fibrosis found among Caucasians:
- Normal (top)
- Cystic fibrosis affected (middle)
- Cystic fibrosis carrier (bottom).
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There are many other types of genetic conditions or disorders. If a previously identified or known cause of a genetic condition has been identified in you or your family, we will most likely be able to provide you a prenatal test to test your pregnancy. Please contact Genea to discuss further.
Blood chromosome test:
A blood chromosome test is performed to determine your constitutional karyotype, or in other words the chromosome makeup you were born with. This test may be requested to look for causes of:
- infertility
- miscarriage
- a child with abnormalities
Miscarriage chromosome testing:
Chromosome abnormalities can be found in up to 60% of miscarriage pregnancy tissue. This test may be requested to determine whether a chromosome abnormality was the cause of your miscarriage via our Molecular aneuploidy screening test.
Molecular genetic testing (non-prenatal diagnosis):
Molecular genetic testing can be performed to detect gene errors, or mutations, found in specific genetic conditions such as Fragile X or Cystic fibrosis. Alternatively, it can also be used to determine how closely related to one another we are, in other words our blood family relationship. This may be important to you when determining who is your biological mother, father, or sibling. Our molecular genetic tests include:
- Chromosome Y microdeletions
- Fragile X
- Cystic Fibrosis