Genetic Screening in Pakistan | Genetic Counselling and Testing in Pakistan

Genetic Testing In Pakistan

Genetic Testing/Screening in Pakistan

• Prenatal testing or Non-Invasive Prenatal Testing: Allowing the ability to find out the gender of the baby as well as to screen chromosomal abnormalities of the baby as early as 10 weeks of pregnancy.
• Carrier Genetic Test: To identify if an individual is suffering or susceptible to a risk of passing certain genetic disorders to his/her offspring. The risk of passing genetic disorders is as much as 70% high as observed in cousin marriages of Pakistani population.
• Whole Exome Sequencing: To sequence entire genome, to identity relevant mutations which can be causative of genetic disease.
• Single Gene Disorder: A multitude of genetic tests can also be offered to individuals suffering from single gene disorders such as Sickle cell anemia, Fragile X, Cystic Fibrosis etc.
• Oncology Genetic Screening Tests: To assess future risk as well as to screen for various cancers such as ovarian, colorectal, breast and additionally can perform comprehensive 160 Human Genes screening test .
• Preimplantation Genetic Diagnosis (PGD) & Preimplantation Genetic Screening (PGS): In conjunction with In Vitro Fertilisation procedure following biopsy of embryo, the biopsied specimen are sent for analysis and can be screened for gender, chromosomal abnormalities / specific genetic diseases to ensure a healthy, chromosomally normal embryo is then selected to be placed back in the female uterus. The analysis is perfomed using Next Generation Sequencing (NGS) with 99.9% accuracy.
• Products of Conception (POC) test: To identify the cause of pregnancy losses, products of conception can be sent for analysis to assess the chromosomal status of the conceptus and to identity specific chromosomal abnormalities causative of losing a precious pregnancy.