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Central Laboratory

For Appointments

Call: 044- 45928540 Ext.:103

About the Department

"She has her mother’s eyes and her father’s nose, Her smile a bit from both…. But does she get her genetic disorder from any one of them?"

Genetic Testing

The Genetic testing services of the Department of Human Genetics has been providing a range of investigative and counseling services for individuals and families with suspected or known hereditary (genetic) conditions since 1997. The well equipped and NABL accredited facility offers karyotyping, Fluorescent in situ Hybridization (FISH) and DNA based testing in the areas of:

  1. Prenatal Genetics
  2. Pediatric Genetics
  3. Adult Genetics
  4. Cancer Genetics (Leukemias)
  5. Biodosimetry (AERB accredited)

Who should contact Genetic Services?

The most common reasons for seeking help from Genetic Services include:

  1. Having already had a child with a hereditary (genetic) condition
  2. Concern when individuals in the family have unusual features or multiple birth defects which include development delay and / or intellectual disability
  3. A woman in her mid-30’s or older who is either planning a pregnancy or is already pregnant
  4. Intending parents are close relatives such as cousins
  5. Exposure to a potential teratogen (or medication during pregnancy) which may cause a birth defect
  6. History of stillbirth or greater than three miscarriages
  7. Unexplained male infertility
  8. Prenatal diagnosis for a known problem or risk
  9. Familial clustering of a specific cancer - particularly with two or more affected first degree relatives.

Molecular Genetics

DNA tests are an essential part of diagnostics and genetic counseling in single gene diseases Molecular Genetics testing offers DNA analysis for many genetic disorders via polymerase chain reaction, gene sequencing, targeted mutation analysis and MLPA deletion/duplication testing. Testing is available for both common and rare genetic disorders with a special interest in conditions involving intellectual disability. Prenatal diagnosis is also available for many of these disorders.

The increased demand for molecular genetic testing is accompanied by a responsibility to ensure that the technology is used appropriately. We support the responsible use of genetic testing by providing pre-and post-test support for referring clinicians. Test requests are monitored for “reason for referral” to ensure that we provide the most accurate interpretation. We are continually expanding our test offerings or partnering with genomic companies to offer a wider range of tests. Please contact us in case a test that you require is not listed.