CARRIER SCREENING TEST

A carrier screening test analyses a person’s genes in order to determine if a person is a recessive genetic disease carrier. A screening test detects many, but not all, carriers of a disease.

When both parents are carriers of the same genetic disease, their child has a 1 in 4 chance of having the disease. Knowing your carrier status before or early in your pregnancy gives you time to learn about the disorder and prepare.

PATERNITY TEST

This test establishes genetic proof whether a man is the biological father of an individual. It may be carried out before or after a child is born.

PRE-NATAL 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 and Miller-Dieker syndrome. 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 scan.

Please don’t hesitate to contact us or talk to your doctor if you have any questions about the above tests.

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