Short Description

Phenylketonuria (PKU) is the most common autosomal recessive inherited disorder of amino acid metabolism caused by deficiency of enzyme Phenylalanine hydroxylase. This assay is useful for evaluating patients with Hyperphenylalaninemia and monitoring effectiveness of dietary therapy.

PreTest Information

Clinical details and drug history must accompany sample.

Detail Description

PHENYLALANINE NEWBORN SCREEN Test: Symptoms, Diagnosis and Cost

Phenylalanine is an essential amino acid that is found in many foods. It is a building block for proteins and is necessary for the proper functioning of the body. However, too much phenylalanine can be harmful, especially for newborns. Phenylalanine newborn screen is a test that is done to check for high levels of phenylalanine in newborns. In this blog, we will discuss the symptoms, diagnosis, and cost of the phenylalanine newborn screen test in India.

Symptoms of Phenylalanine Newborn Screen

High levels of phenylalanine in newborns can lead to a condition called phenylketonuria (PKU). PKU is a genetic disorder that affects the way the body breaks down phenylalanine. If left untreated, PKU can cause intellectual disability, seizures, behavioral problems, and other serious health issues. Some of the symptoms of PKU include:

• Delayed development
• Seizures
• Skin rashes
• Musty or musty-sweet odor in the breath, skin, or urine
• Hyperactivity

Diagnosis of Phenylalanine Newborn Screen

The phenylalanine newborn screen test is a simple blood test that is done shortly after birth. The test measures the level of phenylalanine in the baby's blood. If the level of phenylalanine is high, it could indicate the presence of PKU. Further tests will be done to confirm the diagnosis of PKU.

Cost of Phenylalanine Newborn Screen Test in India

The cost of the phenylalanine newborn screen test in India varies from one lab to another. At DNA Labs India, the cost of the test is INR 292.5. This is a very affordable price for a test that can help detect PKU in newborns. It is important to note that early detection and treatment of PKU can prevent serious health problems.

Conclusion

The phenylalanine newborn screen test is an important test that can help detect PKU in newborns. If left untreated, PKU can cause serious health problems. The test is simple, affordable, and can be done shortly after birth. If you suspect that your baby may have PKU, talk to your doctor about getting the phenylalanine newborn screen test done. Remember, early detection and treatment can make all the difference.