Genetic testing

Genetic testing is a method of genetic diagnosis to check for the susceptibility to hereditary diseases and can also be used to establish the ancestry of any person. Genetic testing studies the chromosome, breaking it to individual genes. In a broader sense, it can be used as a biochemical test for scrutinizing the existence and nonexistence of main proteins that hint abnormalities of certain genes. Genetic testing studies the abnormality in the chromosomes, genes or proteins. It can be used to find out whether a particular genetic condition is developing and it's chances of being passed over to the future generations.

The most widely used type of genetic testing is newborn screening. Genetic testing during pregnancies is called as prenatal genetic testing and is performed during pregnancy to screen or identify birth defects. This provides ample information on the developing fetus both for the parents and the physician. Amniocentesis and chorionic villus sampling is the common diagnostic test performed to diagnose any defect in the fetus. These diagnostic tests are ordered for if the triple test (AFP test, hCG blood test, and UE3) returns abnormal results.

Thyroid test

A T3 immunoassay test helps to determine whether the thyroid is functioning properly. It is primarily done to diagnose hyperthyroidism. T3 is also done to monitor the progress of a patient with a known thyroid disorder. T3 test is also sometimes conducted along with thyroid antibodies test to diagnose diseases such as Graves' disease, which is an autoimmune disorder that is the most common cause of hypothyroidism. Most of the T3 in the blood is attached to the thyroxine binding globulin. Only less than 1% of the T3 remains unattached. A T3 blood test is used to measure both the bound and the free Triiodothyronine. Increased or decreased T3 test result indicates that there is an imbalance between the body's requirement and supply of the hormone. If a patient is being treated with anti-thyroid medication for hyperthyroidism and the T3 is normal, then it is likely that the medication is controlling the condition. If the T3 is elevated, then the medication is not sufficient and the patient may be experiencing symptoms associated with hyperthyroidism. The normal test value for T3 is 100 to 200 ng/dL (nanograms per deciliter).

The T4 immunoassay test helps measure the amount of Thyroxine or T4 in the blood. A T4 immunoassay test is primarily done in response to an abnormal TSH result. Sometimes T4 is done along with TSH blood test. Thyroid hormone screening is commonly performed in newborns in the US as part of newborn screening programs for congenital hypothyroidism which may cause mental retardation if left untreated. False positive results can occur when testing a newborn for congenital hypothyroidism. Therefore normally the test is repeated a few days after initial testing. If the results continue to be abnormal, then additional testing is done. The normal range of a T4 test for an adult is 5 - 11 ug/dL (nanograms per deciliter).

There are other thyroid tests that indicate a malfunction. One such test is the 'Thyroid antibodies' test. This test is used to measure the presence of antibodies against thyroid tissue. Antibodies mean that the person has autoimmune disease such as Hashimoto's Thyroiditis or Graves' disease ( a condition characterized by an enlarged thyroid gland, weight loss without loss of appetite, sweating, heart palpitations, nervousness and inability to tolerate heat).

Thyroxine-binding globulin (TBG) is another thyroid test which detects the TBG which is an important protein in the blood that carries the thyroid hormones T3 and T4. This is a rare test and not done very commonly. Other diagnostic tests that are used to investigate problems with thyroid gland are the thyroid scan, thyroid ultrasound and thyroid biopsy.