Genetic testing

Overview:

Genetic testing helps in detecting any irregularities or changes in the genes, chromosomes or proteins that determine how the person’s body functions. The results derived from the test can either confirm or rule out any possibility of a genetic disorder or can identify if the person is at risk of developing and passing on the genetic condition to their offspring.

There are presently 77,000 different types of genetic tests that are being used and more are being developed.

What Does Genetic Testing Evaluate:

The test looks for changes in the genes, chromosomes, and proteins.

• Genes: The testing of genes involves assessing a person’s DNA to identify any kind of genetic disorder. The test either analyzes the person’s individual DNA,(nucleotide testing) one or more genes, or their entire DNA setup which is called genome testing.
• Chromosomes: Genetic testing involves checking the entire chromosomes or long lengths of DNA to see if the person has any significant genetic irregularities like an additional chromosome.
• Proteins: Biochemical genetic tests check the activity levels of proteins and enzymes that show disruptions in the DNA leading to genetic conditions.

What Are the Different Types Of Genetic Tests:

• Prenatal Testing: This test helps identify gene mutations or abnormalities in the chromosomes in the fetus. The test is recommended if the baby has a risk of developing a genetic disorder due to family history.
• Diagnostic testing: The test is used to confirm the diagnosis of problems in the genes and chromosomes especially during pregnancy.
• Carrier testing: Carrier testing helps determine if a person is carrying a mutated gene but doesn’t have any symptoms. This test is carried out if one parent’s family has a history of a particular condition and includes testing both parents to gauge the chances of the condition being passed on to their children.
• Preimplantation testing: This test can discover genetic mutations in the embryos created using assisted reproductive technique (ART). The testing involves taking some cells from the embryos and only the embryos without the mutations are reimplanted back in the uterus.
• Newborn screening: The test assesses the newborn for any genetic, metabolic, or hormonal conditions.
• Predictive and Presymptomatic testing: The test evaluates the possibility of developing a genetic condition later by looking for genes that can increase the risk, especially breast cancer.
• Pharmacogenetics: If a person has a certain medical condition, pharmacogenetics testing helps find out which medicine and dosage will work best for the person.

Which Conditions Does Genetic Testing Help Diagnosing:

Genetic testing helps in detecting some conditions which include:

• Down’s syndrome.
• Huntington’s disease.
• Cystic fibrosis.
• Sickle cell disease.
• Phenylketonuria.
• Colon cancer.
• Breast cancer.

Genetic testing can also help in determining whether a person is the biological father of a child through a DNA cheek swab or a blood test. This is called a paternity test and can also be carried out as a prenatal paternity test during the pregnancy.

What Is The Procedure For DNA Testing:

Depending on the type of test, the person’s blood, skin, amniotic fluid, or tissue sample is taken and sent for genetic testing.

A blood sample is taken by inserting a needle into the vein of the person in the arm. For newborn babies, the needle is inserted in their heel.  Certain tests require collecting a swab sample from the cheek for testing.  For prenatal testing, the doctor puts a hollow needle through the abdominal wall and inside the uterus to take a sample of amniotic fluid. Sometimes the prenatal test requires collecting a sample from the placenta which involves inserting a catheter through the cervix or uterus.

The time taken for the procedure as well as for the results depends on the type of test.

If the result is positive it means the person has mutated genes or chromosomes and if the test is negative, there is no abnormality found. However, the person can have inconclusive results too as it is sometimes difficult to differentiate between a disease-causing gene or a harmless gene variation.

The Risks Of Genetic Testing:

• Since the prenatal test requires drawing a sample from the amniotic fluid there is a minor risk of a miscarriage.
• If a person receives a positive result from the test it can be emotionally very upsetting to know that they are susceptible to a significant health condition. 
• Genetic testing involves very high costs.
• The test doesn’t provide information on all the medical conditions. Additionally, it is not 100% accurate and cannot predict when the person may develop the condition or symptoms related to it.

Genome Sequencing:

There are times when the genetic testing results are uncertain and they don’t lead to a conclusive diagnosis. However, if the doctor doubts that there is a genetic abnormality, they may suggest genome sequencing.

Genome sequencing is a laboratory test that helps in determining the complete genetic makeup of a person. It is the entire stack of DNA present in all the genes of a person.

Each human has a unique genome setup and this technique helps in discovering genetic variants that may indicate a medical condition. The process looks into the protein-encoded parts of the DNA called the exomes.

Conclusion:

Genetic testing can help a person discover if they are likely to develop a medical condition or if they already have one. If the test is negative it gives a person peace of mind that they are in good health and have nothing to worry about. However, if the test is positive it can give the person anxiety even if the symptoms may not be present. The best way forward is to consult a doctor and discuss with them if there is a need for genetic testing. The doctor guides the person based on their medical history and family history of health conditions. 

Popular Searches :

Hospitals: Cancer Hospital in Delhi | Best Heart Hospital in Delhi |  Hospital in Amritsar | Hospital in Ludhiana | Hospitals in Mohali | Hospital in Faridabad | Hospitals in Gurgaon | Best Hospital in Jaipur | Hospitals in Greater Noida | Hospitals in Noida | Best Kidney Hospital in Kolkata | Best Hospital in Kolkata | Hospitals in Rajajinagar Bangalore | Hospitals in Richmond Road Bangalore | Hospitals in Nagarbhavi Bangalore | Hospital in Kalyan West | Hospitals in Mulund | Best Hospital in India | | Cardiology Hospital in India | Best Cancer Hospital in India | Best Cardiology Hospital in India | Best Oncology Hospital In India | Best Cancer Hospital in Delhi | Best Liver Transplant Hospital in India

Doctors: Dr. Rana Patir | Dr. Rajesh Benny | Dr. Rahul Bhargava | Dr. Jayant Arora | Dr. Anoop Misra | Dr. Manu Tiwari | Dr. Praveer Agarwal | Dr. Arup Ratan Dutta | Dr. Meenakshi Ahuja | Dr. Anoop Jhurani | Dr. Shivaji Basu | Dr. Subhash Jangid | Dr. Atul Mathur | Dr. Gurinder Bedi | Dr. Monika Wadhawan | Dr. Debasis Datta | Dr. Shrinivas Narayan | Dr. Praveen Gupta | Dr. Nitin Jha | Dr. Raghu Nagaraj | Dr. Ashok Seth | Dr. Sandeep Vaishya | Dr. Atul Mishra | Dr. Z S Meharwal | Dr. Ajay Bhalla | Dr. Atul Kumar Mittal | Dr. Arvind Kumar Khurana | Dr. Narayan Hulse | Dr. Samir Parikh | Dr. Amit Javed | Dr. Narayan Banerjee | Dr. Bimlesh Dhar Pandey | Dr. Arghya Chattopadhyay | Dr. G.R. Vijay Kumar | Dr Ashok Gupta | Dr. Gourdas Choudhuri | Dr. Sushrut Singh | Dr. N.C. Krishnamani | Dr. Atampreet Singh | Dr. Vivek Jawali | Dr. Sanjeev Gulati | Dr. Amite Pankaj Aggarwal | Dr. Ajay Kaul | Dr. Sunita Varma | Dr. Manoj Kumar Goel | Dr. R Muralidharan | Dr. Sushmita Roychowdhury | Dr. T.S. MAHANT | Dr. UDIPTA RAY | Dr. Aparna Jaswal | Dr. Ravul Jindal | Dr. Savyasachi Saxena | Dr. Ajay Kumar Kriplani | Dr. Nitesh Rohatgi | Dr. Anupam Jindal 

Specialties: Heart Lung Transplant | Orthopedic | Cardiology Interventional | Obstetrics & Gynaecology | Onco Radiation | Neurosurgery |  Interventional Cardiology | Gastroenterologist in Jaipur | Neuro Physician | Gynecologist in Kolkata | Best Neurologist in India | Liver Transfer | Best Cardiologist in Delhi