Neonatal Screening for Phenylalanine - Test Price, Normal Range | Sprint Diagnostics Hyderabad

Patient Preparing : No fasting required. Newborn should have normal feeding before the test.

₹ 450


Phenylalanine is an essential amino acid, which means our bodies can't produce it, and it must be obtained through the diet. It is important for the production of proteins and other molecules in the body. However, high levels of phenylalanine can be harmful, especially to newborns.

Neonatal screening for phenylalanine is a vital diagnostic test performed on newborns to check for an inherited disorder called phenylketonuria (PKU). PKU is a rare metabolic disorder in which the body is unable to break down phenylalanine, causing a build-up of this amino acid in the bloodstream and potentially leading to severe intellectual disability and other health problems if not detected and treated early.

This test is part of the newborn screening program and is generally done within a few days of birth. The test involves taking a small blood sample from the baby's heel, which is then sent to a laboratory for analysis.

Test Name Neonatal Screening for Phenylalanine
Sample Type Blood
Preparations Required No fasting required. Newborn should have normal feeding before the test.
Report Time 3 days
Price in Hyderabad ₹ 450

Why is the phenylalanine screening test necessary?

The phenylalanine screening test is crucial for early detection of PKU. Early detection and treatment can prevent the severe intellectual disability and other health problems associated with PKU. The test is a preventative health measure that is part of a standard screening panel for newborns in many countries.

How is the test performed?

The test is performed by collecting a few drops of blood from the baby's heel. This blood is placed on a special filter paper and sent to a laboratory for analysis.

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What do the test results mean?

A high level of phenylalanine in the blood may indicate PKU or another metabolic disorder. If the test result is abnormal, further diagnostic tests will be performed to confirm the diagnosis.

Is the test painful?

The heel prick may cause minor discomfort to the baby, but it is usually quick and causes no lasting pain.

Can this test harm my baby?

The test is safe and poses minimal risk to your baby. The potential benefits of early detection and treatment of PKU far outweigh any potential risks associated with the blood draw.

What is the treatment for PKU?

The treatment for PKU involves a strict diet that is low in phenylalanine. This diet must be started in the first few weeks of life and maintained throughout life.

What happens if PKU is not treated?

If left untreated, PKU can lead to severe intellectual disability, seizures, behavioral problems, and other health issues.

Can adults have PKU?

Yes, adults can have PKU. However, PKU is a genetic disorder that is present from birth, and symptoms usually appear in infancy or early childhood.

Is PKU curable?

There is currently no cure for PKU, but the condition can be managed effectively with a strict diet and regular monitoring.

How common is PKU?

The prevalence of PKU varies among different populations. In the United States, for example, PKU occurs in about 1 in every 10,000 to 15,000 newborns.

Are there any side effects of the PKU diet?

The PKU diet is low in protein and requires careful monitoring and supplementation to ensure proper growth and development. Your healthcare provider or dietitian will provide guidance to ensure that all nutritional needs are met.

Can PKU be prevented?

PKU cannot be prevented, but early detection and treatment can prevent the severe effects of the disorder.

Can a child with PKU lead a normal life?

Yes, with early detection and proper treatment, a child with PKU can lead a healthy and productive life.

What should I do if my baby's phenylalanine test result is abnormal?

If your baby's phenylalanine test result is abnormal, your healthcare provider will guide you through the next steps, which may include further testing and consultation with a metabolic specialist.

What is the long-term outlook for a child with PKU?

With early diagnosis and proper treatment, the outlook for a child with PKU is generally good. The child can grow up to lead a normal and productive life. However, lifelong adherence to a strict diet is essential.

What foods should a person with PKU avoid?

A person with PKU should avoid high protein foods such as milk, cheese, nuts, soy, meat, fish, eggs, and beans. They should also avoid foods and drinks that contain the artificial sweetener aspartame, as it is converted into phenylalanine in the body.

What is maternal PKU?

Maternal PKU is a term used when a woman with PKU becomes pregnant. It is crucial for women with PKU to maintain low phenylalanine levels before and during pregnancy to prevent birth defects.

What role do genetics play in PKU?

PKU is an autosomal recessive genetic disorder. This means a child must inherit a copy of the defective gene from both parents to develop the disease. If both parents are carriers of the PKU gene, there is a 25% chance their child will have the disorder.

Can a person with PKU drink alcohol?

Many alcoholic beverages contain phenylalanine, so it's generally recommended that individuals with PKU avoid alcohol or consume it in very limited quantities under the guidance of a healthcare professional.

Are there any support groups for families affected by PKU?

Yes, several organizations and online communities offer support and resources for families affected by PKU. These can provide valuable information, emotional support, and a sense of community.

How is PKU diagnosed in adults?

In adults, PKU is diagnosed through a blood test that measures the amount of phenylalanine in the blood. Symptoms such as intellectual disability, neurological issues, and skin problems may also prompt a diagnosis.

Are there any new treatments for PKU on the horizon?

Research into new treatments for PKU is ongoing. Recent advances include enzyme replacement therapy and gene therapy. However, these treatments are still in the experimental stages.

Can PKU affect a person's mood or behavior?

Yes, high levels of phenylalanine can affect brain function and can lead to mood disorders, anxiety, and other behavioral issues.

Can a baby be tested for PKU before birth?

Yes, prenatal testing can detect PKU. However, it's generally only recommended if there's a high risk of the baby having the disorder, such as when both parents are known carriers of the PKU gene.

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