FAQ

A Medical Genetics Laboratory is a facility specialized in performing diagnostic tests related to genetic conditions. These tests help in diagnosing hereditary diseases, understanding genetic predispositions, and guiding personalized medical treatments.

Yes, specific genetic tests can identify mutations in genes (such as BRCA1 and BRCA2) that increase your risk of certain cancers, like breast, ovarian, or colorectal cancer. These tests can help guide preventive measures.

It is a professional service that helps individuals and families understand and manage the medical, psychological, and familial implications of genetic disorders. It involves:

• Assessing family and medical histories to determine the risk of inherited conditions.
• Explaining genetic test results and their significance in clear, understandable terms.
• Providing support and guidance on potential health risks, treatment options, and reproductive choices.
• Offering emotional support to help individuals cope with the impact of genetic information on their lives.

Genetic counselling is essential in helping people make informed decisions about their health and their family’s health.

Common tests include:

• Genetic screening: For identifying potential genetic disorders.
• Diagnostic testing: For confirming suspected genetic conditions.
• Carrier testing: For determining if an individual carries a gene for an inherited disorder.
• Prenatal testing: To assess fetal health for genetic conditions.
• Pre gestational Test (PGT) : A technique used to screen embryos for genetic abnormalities before they are implanted during in vitro fertilization (IVF).
• Non-Invasive Prenatal Testing (NIPT):A screening method used during pregnancy to detect certain genetic conditions in the fetus.
• Pharmacogenomics testing: To tailor medication based on individual genetic makeup.
• Next-generation sequencing (NGS): For comprehensive DNA analysis.

You may need genetic testing if:

• You have a family history of genetic disorders.
• You or your partner are planning to conceive and want to understand potential genetic risks.
• You have a personal or family history of cancer or other genetic-related diseases.
• Your physician recommends testing based on symptoms or risk factors.
• Cancer Screening and help to cancer therapy

Consanguinity marriage

Genetic testing typically involves:

• Sample collection: Usually a blood or saliva sample.
• Lab analysis: The sample is processed and analyzed for genetic variants.
• Results: A report is generated and shared with your healthcare provider, who will interpret the findings and guide further medical management.

The time frame varies depending on the test. Simple tests may take a few days, while more complex tests like whole genome sequencing can take several weeks.

The difference between a gene and a chromosome is:

• A gene is a segment of DNA that contains instructions for making proteins or performing specific functions in the body. Each gene controls a particular trait or function, such as eye color or metabolism.
• A chromosome is a long thread-like structure made of DNA and proteins that contains many genes. Humans have 23 pairs of chromosomes in each cell, which hold all the genetic information needed for growth, development, and function.

In simple terms, a chromosome is like a book, and genes are the individual instructions (pages) inside it.

A variant of unknown significance (VUS) means that the genetic change detected has not yet been fully understood. Further research or additional family testing may be needed to determine its clinical significance.

• Diagnostic testing is used to confirm or rule out a specific genetic condition in a symptomatic individual.
• A screening test is a medical test performed on a population or group of people to identify individuals who may have a specific disease or condition, even if they do not have symptoms.

While genetic testing can provide valuable insights, it has limitations:

• • It may not detect all genetic mutations.
  • A negative result does not guarantee you won’t develop a genetic disorder.
  • Genetic testing cannot predict with certainty whether or when a condition will develop, in the case of predispositions.

In many cases, genetic testing is ordered by a healthcare provider to ensure the correct test is performed and the results are interpreted appropriately. However, some direct-to-consumer genetic tests are available without a physician’s referral, but these may be limited in scope.

If your test reveals a genetic disorder, your healthcare provider will discuss the implications for your health, treatment options, and potential preventive strategies. You may also be referred for genetic counselling to help understand the results.

Yes, genetic testing can be done for children, especially if there is a suspicion of a genetic disorder based on symptoms or family history. However, predictive testing for adult-onset conditions is generally deferred until adulthood unless there is a medical need.

The accuracy of genetic tests varies depending on the test type. Many tests have high sensitivity and specificity, but no test is 100% accurate. It’s essential to discuss results with a healthcare provider for proper interpretation.

The accuracy of screening genetic tests can vary based on several factors, including the type of test being conducted and the specific conditions being screened for. While screening genetic tests are generally accurate and useful for assessing risk, it’s essential to discuss results with a healthcare provider for proper interpretation and to determine if further diagnostic testing is needed.