Human Genetics

The Human diagnostic department of Unistel Medical Laboratories provides extensive expertise in the testing, diagnosis and genetic counselling of inherited disorders and cytogenetic analysis. Genetic tests are performed on chromosomes cultures for cytogenetic analysis, DNA for molecular genetic analysis, DNA profiling and forensic DNA analysis.

Genetic tests are available for:
  • Prenatal diagnosis and rapid trisomy screening by quantitative –PCR on chorionic villi, amniocytes and foetal blood
  • Full chromosome analysis of amniotic, chorionic villus cell cultures and foetal blood.
  • New-born chromosome analysis
  • Chromosome analysis on bone marrow and peripheral blood for hematologic conditions.
  • FISH analysis on cultured or uncultured samples, fixed tissue as well as tumour shavings for testing of copy number changes and the presence or absence of translocations, deletions, duplications and gene fusions
  • Molecular DNA screening and testing for inherited disorders and hematologic conditions.
  • Confirmation of symptomatic individuals and pre-symptomatic testing
  • Genetic variation that influences risk of disease
  • DNA profiling for identity studies, paternity, maternity parentage and kindship analysis, zygosity and forensic DNA tests.
  • DNA profiling for bone marrow assessment
  • Fertility studies
  • Studies on products of conception

Genetic testing may sometimes be complex with varying degrees of success in their ability to detect mutations, deletions, duplications, copy number variants and other abnormalities associated with genetic conditions or disorders.

Tests may be diagnostic or indicative for a condition or may indicate an association with an altered risk for conditions. The constant development of new technologies and increased knowledge of genetic and epigenetic factors necessitate broader interlaboratory collaboration and constant upgrading of technology.