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Lab Test

Neonatal Screening - 111 Conditions (Urine)

Neonatal screening is a critical health strategy for early detection of numerous metabolic and genetic conditions that may not exhibit symptoms at birth. This extensive neonatal screening panel covers testing for 111 conditions using urine as the sample. The test aims to identify potential metabolic, endocrine, and other inherited disorders. Early detection and intervention can significantly improve the child's prognosis and quality of life.


  • Profile Name: Neonatal Screening - 111 Conditions (Urine)
  • Sample Type: Urine
  • Preparations Required: No specific preparation is required. The test is typically performed on a newborn baby within the first few days of life.
  • Report Time: 4 Days

Conditions tested for include, but are not limited to, various types of aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, and others. The screening utilizes cutting-edge technologies such as Tandem Mass Spectrometry and Gas Chromatography-Mass Spectrometry, known for their accuracy and reliability in detecting a wide range of metabolites.

Home Sample Collection Process

1
Book your convenient slot
Book your convenient slot
2
Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
3
Reporting of the sample at lab
Reporting of the sample at lab
4
Download Reports
Download Reports
Frequently Asked Questions

Neonatal screening is pivotal in identifying various metabolic and genetic disorders that might not be evident at birth. Early diagnosis and prompt treatment can prevent severe health complications, enabling better management of the condition.

This test screens for 111 conditions, including various types of aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, among others.

A urine sample is collected from the newborn, usually within the first few days after birth, and sent to a lab for analysis.

The test is typically performed within the first few days of life, but it can also be done later if necessary.

The test involves collecting a urine sample, which is a non-invasive procedure with no associated risks.

A positive result indicates that your baby may have one of the conditions the test screens for. However, a positive screening result doesn't confirm a diagnosis. Further confirmatory tests will be performed to establish a definitive diagnosis.

Yes, most of these disorders can be managed with specific treatments, including medication, dietary adjustments, or other interventions. Early detection is critical for optimal treatment outcomes.

The test is very accurate, but no test is 100% foolproof. There's always a small chance of false positives or negatives. Therefore, any positive result is confirmed with additional testing.

Neonatal screening recommendations vary by country, but it is generally highly encouraged due to its potential to detect and thus prevent severe health problems.

Without the screening, the conditions it tests for may not be diagnosed until symptoms appear. This delay can result in more severe health complications and poorer treatment outcomes.

A negative result means that the tested conditions were not detected in your baby's urine sample. However, it doesn't guarantee that your baby will not develop other conditions or diseases later.

The results are typically available within 7 to 10 days after the sample is received by the lab.

The urine collection can be done at home, but the analysis must be carried out in a lab. In general, the procedure is usually performed at a hospital or a healthcare facility.

For newborns, urine is often collected using a special bag with adhesive that sticks to the baby's skin. Once urine is collected, the sample is then sent to a laboratory for analysis.

Yes, your baby can eat and drink normally before the test. There are no specific preparations needed for this screening test.

The reliability of this test is quite high. However, the sensitivity and specificity can vary slightly among conditions. If a condition is detected, additional confirmatory tests are conducted to ensure the accuracy of the diagnosis.

If your baby's screening result is positive, your healthcare provider will discuss the next steps, which will likely include further diagnostic testing. If a diagnosis is confirmed, treatment options will be explored.

Most of the disorders included in this screening panel are genetic and cannot be prevented. However, they can be managed effectively if detected early.

Coverage for neonatal screening tests can vary by insurance provider. It's recommended to check with your insurance company for specific details.

This screening is designed to identify newborns who are affected by these conditions. Some of these conditions are inherited in a way that allows individuals to be carriers without showing symptoms. Carrier testing is a different type of genetic test.

A "borderline" result means that the levels of certain metabolites in the urine are higher than normal, but not high enough to clearly indicate a positive result for a particular condition. In these cases, repeat testing or additional testing may be recommended.

The effectiveness of treatment can vary greatly depending on the specific condition, the severity of the condition, when treatment is started, and other individual factors. However, in general, early diagnosis and treatment can significantly improve a child's quality of life and prognosis.

Follow-up testing may be necessary, particularly if the initial screening test gives a positive or borderline result. Further diagnostic testing can help confirm the diagnosis and guide treatment.

If left undiagnosed and untreated, these conditions can lead to serious health issues including developmental problems, physical disabilities, and life-threatening crises. Early detection and management can significantly improve the child's prognosis and quality of life.

After a confirmed diagnosis, a treatment plan will be put into place. This may involve medications, dietary changes, and potentially other interventions. You'll also receive education and support to help manage your child's condition.

All babies are recommended to undergo this screening test. Many of the conditions screened for can occur in families with no prior history.

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