Is the urine test painful when done to test for genetic metabolic disorder?

What is urine based newborn metabolic screening?

A urine based test for genetic metabolic disorder screening is done for baby. It diagnoses babies accurately suffering from any genetic metabolic disorder. Since a healthy, functioning metabolism is crucial for life, metabolic disorders are treated very seriously. A broad range of conditions including PKU and MSUDe are classified as metabolic disorders. However not all can be diagnosed and not all have treatment options available. But for few common ones their is hope. Diagnosing a metabolic disorder can be difficult, as a wide variety of problems create similar symptoms; many patients end up enduring a battery of tests and seeing multiple experts before the root cause of their problems is identified. Simple and safe option is urine based screening for more than 100 disorder. It is non invasive, painless and reliable.

Why is urine used as a sample over blood when testing for genetic metabolic disorders?

Urine is the preferred sample when testing for acidemia in metabolic disorders. The general researchers says that the metabolites appear in urine first and take longer to be detected in blood, making the urine sample as the preferred sample for screening and diagnosis of rare 100 metabolic disorders. Metabolites appear first in the urine and later in the blood, making pre-symptomatic detection of metabolic disorders possible from urine sample. Its a Non-invasive process for screening of metabolic disorders, hence its Baby-friendly. Therapy and Management of these disorders at its earliest will help to curb any damage to the baby.

What does copper in your urine mean?

Copper in the urine isn't anything to worry about per say. A 24 hour urine copper test simply measures the amount of copper in the urine. There is a genetic disorder called Wilson's disorder that affects how the body processes copper.

What is this metabolic screening done by and for?

Metabolic Screening is done to test for congenital genetic disorder in newly born babies by a urine test covering more than 100 metabolic disorders.Metabolic disorders (often called "inborn errors of metabolism") interfere with the body's use of nutrients to maintain healthy tissues and produce energy.In general, metabolic disorders can hinder an infant's normal physical and mental development in a variety of ways. And parents can pass along the gene for a certain disorder without even knowing that they're carriers.

How reliable is the genetic testing by a urine test?

In genetic testing particularly in metabolic disorders the testing is done by a painless urine test for DNA analysis even a cheek swab is sufficient. To know about genetic abnormality during pregnancy their are specialized test like amniocentesis and CVS and after delivery a urine test to know about a metabolic defect. Before birth all metabolic dysfunction was corrected by mother but after delivery when the baby starts surviving on it own he insufficiencies start becoming visible. This disorder starts harming the baby right from birth but symptoms only appear later. This is the reason why it becomes difficult for parents to believe that the disorder was present since birth it only got diagnosed later in life and the baby is suffering because they did not get the urine test done before. Urine test is very reliable as it can detect metabolites even in micro concentration. Test results are diagnostic making it reliable. I remember when my baby was in the nicu, the treatment was based on the urine report. When I further researched this aspect, (I always knew that blood report is the ultimate) to my surprise I found that the urine test which is carried out on Newborns after 48 hours of their birth is 100% reliable. After 48 hours, the metabolic system of the baby kicks in and hence can give the exact levels of the metabolites that are present in the body through the urine. These levels may not been seen accurately in the blood and hence urine is the best method.

What are examples of metabolic waste?

Urine and sweat are examples of metabolic wastes. Feaces are NOT metabolic wastes.

What does Urine remove?

Metabolic waste.

Are genetic metabolic disorders preventable. Why to screen them at birth?

When it comes to genetic metabolic disorders early detection is the prevention of disease manifestation. You can not prevent a genetic disorder from occurring. Screening at birth by painless urine test can prevent the disease from harming the baby. Metabolic disorders are due to a defect in metabolic pathway as the enzyme catalyzing is defective due to a defect in a gene coding it. This situation can not be corrected but can be effectively managed by diet modifications and special foods. Genetic metabolic disorders are not preventable as they are defective gene that are passed from the parents to their offspring, that why screening at birth for these disorders become important. The parents just carry these genes without showing any signs of the disorders which then becomes evident in the baby after birth. Screening through urine sample for more than 100 metabolic disorders is gaining popularity, which is baby friendly rather than pricking them at the heel. Management of these disorders after screening will help in preventing any irreversible damage to the baby. After about 6 months of my baby's birth, my baby started becoming lethargic and less enthusiastic about feeding or even playing. She only slept all the times. Initially, I did not get too concerned about it, as most babies sleep all the time, but then when I showed her to the ped., he immediately asked me to do a metabolic urine test for 100 disorders, which showed positive and then only after modified diet, did my baby start to thrive. If I had known of this test before and that it could be done at birth, I would have not lost so much of time. While my baby is doing well now, I will always regret the fact that I did not do the urine test at birth. While metabolic disorders are not preventible, doing the simple urine test at birth can save a lot of time and pain for the health of the child.

What does the urine remove?

Urine removes waste products and excess substances from the body, such as urea, excess water, electrolytes, and other metabolic byproducts.

True or false a congenital disorder is present at birth?

A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life (neonatal disease), regardless of causation.

What is the comprehensive panel metabolic screening for newborn babies?

Comprehensive panel metabolic screening is done on newborn babies to test for genetic disorders from birth. The panel comprises of many rare metabolic disorders which individually might occure very rare but when seen collectively the occurrence increase many fold. There are more than 100 metabolic disorders which can be detected in a newborn urine sample.

Does urine contain genetic material. Like if one gives a urine sample is one submitting genetic material?

No.