Almost all medical conditions can be viewed through a genetic lens.

Genetic Counseling: a communication process helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to the disease.

All screening and diagnostic tests should have pre- & post-test counselling with clinical evaluation and family history

Screening Tests

Carrier Screening: Identifies a person carrying one copy of a gene mutation. It is offered to someone with a family history of a disorder or belongs to a particular ethnic group which is prone to a specific disorder. The test can determine the inheritance risk to the progeny.

Predictive screening: Detects gene mutations associated with adult genetic disorders present in the family. Patient may be asymptomatic at the time of testing, but his susceptibility can be found out and decisions about lifestyle amendments and management / medication can be made.

Prenatal screening: Suggests likely changes in genetic meterial. Needs a confirmatory test before any irreversible action.

Pre-implantation screening: comprises a group of genetic assays used to evaluate embryos before transfer to the uterus.

• PGT – A : Identifies whole numerical chromosomal abnormalities (aneuploidies).
• PGT – STR : Detects structural chromosomal rearrangements / abnormalities.
• PGT-M – For single gene disorders

New-born screening: performed within 24-48 hours of birth to 6 months of age. Detects many conditions allowing treatments / interventions to prevent severe irreversible disability including mental sub normalcy or even death.

• Heel prick – A few drops of blood are collected by heel prick on a special filter paper to detect inborn errors of metabolism and it can be couriered to the lab.
• Heart – Detects critical congenital heart defects with pulse oximetry and sensors.
• Hearing – Detects hearing loss with the help of tiny earphones by checking the baby’s responses to sound.
• Vision - Detects abnormalities with a torchlight examination of the external structures, and red reflex testing or wide-field digital imaging for internal structures leading to severe visual impairment or permanent vision loss if left untreated.

Diagnostic Tests

It can confirm the said disorder. It helps making choices about treatment and care. It may need parental testing to determine inheritance risk to progeny. Other family members can decide if they want to be tested too.