Carrier screening test
A carrier screening test is a comprehensive genetic analysis that scrutinizes an individual's genes to identify whether they carry recessive genetic diseases. This proactive approach can uncover valuable insights into potential genetic risks that may be passed on to future generations.
A screening test detects many, but not all, carriers of a disease. However, when both prospective parents are carriers of the same genetic disease, this information becomes particularly significant. In such cases, their child faces a 1 in 4 chance of inheriting the disease. Recognising your carrier status before or early in pregnancy offers a unique opportunity to delve deeper into the specific genetic disorder in question, its potential impact on health, available treatment options, and support resources.
Armed with this knowledge, individuals and couples can make informed decisions regarding family planning and, if necessary, consider early interventions or medical management, ultimately ensuring the well-being of their future children and promoting a healthy start to parenthood.
Paternity test
A paternity test is a DNA-based test used to determine the biological relationship between a man and a child, specifically whether the man is the biological father of the child. It may be carried out before or after a child is born.
Paternity testing is typically conducted for various reasons, including legal matters, personal curiosity, child custody and support cases, immigration purposes, and establishing parental rights and responsibilities.
Prenatal BoBs™
This test detects not only major chromosomal aneuploidies for all chromosomes but also 9 microdeletions which are not easily found using other routine laboratory methods.
These microdeletion syndromes include:
- DiGeorge syndrome
Williams-Beuren syndrome
Prader-Willi syndrome
Angelman syndrome
Smith-Magenis syndrome
Wolf-Hirschhorn syndrome
Cri-du-chat syndrome
Langer-Giedion syndrome
Miller-Dieker syndrome
The sample required is chorionic villus sampling or amniotic fluid.
Microarray
This test can detect smaller genetic changes than conventional karyotyping. It provides accurate information on the location, size, and possible consequences of the gain or loss of genetic material.
This test is applicable to both prenatal and postnatal samples.
In postnatal cases, patients should present with mental retardation, autism/ autism spectrum disorder, congenital malformations, developmental delay or dysmorphic features.
In prenatal cases, patients may show an increased nuchal translucency or other abnormalities on ultrasound scans.
Other genetic tests
These are some of the tests we facilitate:
- QF-PCR (rapid detection of chromosome aneuploidies of chromosomes 13, 18, 21, X & Y)
FISH for DiGeorge syndrome, Angelman syndrome, Prader-Willi syndrome
Fragile X syndrome
Huntington disease
Toxoplasma test
Cytomegalovirus PCR
Y-microdeletion
Genotyping (alpha & beta – thalassaemia)
Gene mapping (alpha & beta – thalassaemia)
Achondroplasia
Cystic fibrosis
