Is the test painful for the baby?

The procedure is simple, and the baby may feel slight discomfort when the blood is drawn.

What happens if the results are positive?

If the results are positive, further tests will be conducted to confirm the findings and determine the appropriate treatment plan.

Can a baby develop these disorders after the screening?

The screening helps detect disorders early, and early identification allows for intervention and treatment before symptoms appear.

Medical Laboratories

Newborn Screening - Type 1

Neonatal Screening Profile Type 1

A comprehensive early screening program for newborns to detect common genetic and metabolic disorders, ensuring a healthy start and proactive medical intervention when needed.

Trusted medical contentUpdated: 25-04-2026Views: 62LHL-578

About this service

The Neonatal Screening Profile type 1 test is an important test performed on newborns during the first days of life. This test aims to screen for a range of genetic and metabolic disorders that could affect the baby’s health and development. The screening involves measuring levels of certain vital substances in the blood, such as hormones and enzymes, which helps in the early detection of conditions like thyroid hormone deficiency, phenylketonuria, and other metabolic disorders. Early detection allows for immediate intervention and appropriate treatment, reducing health risks and improving the chances of healthy growth for the baby. It is recommended that this test be conducted in a hospital or a well-equipped medical center, and the results should be interpreted by a specialist doctor.

Purpose Test

Congenital Hypothyroidism: A condition that may lead to growth and developmental problems if left untreated.
Phenylketonuria (PKU): A disorder that affects the body's ability to metabolize amino acids, which may result in the accumulation of toxic substances.
Other Metabolic Defects: Such as certain inherited metabolic disorders that affect how the body processes nutrients.

Recommended groups

All Newborns: This screening is performed as part of the routine tests for all newborns during the first few days of life.
Newborns with a Family History of Genetic Disorders: It is recommended for infants who have relatives with known hereditary conditions.
Newborns Born Under Special Medical Circumstances: Such as babies born with low birth weight or those who have undergone blood transfusions.
Newborns Showing Abnormal Symptoms After Birth: Such as poor growth or feeding difficulties.

Symptoms indicative

Poor Growth: Lack of normal weight or height gain.
Feeding Problems: Difficulty feeding or decreased appetite.
Behavioral Changes: Noticeable lethargy or reduced activity.
Skin Disorders: Such as jaundice (yellowing of the skin) or unusual skin changes.
Delayed Motor Development: Difficulty achieving age-appropriate motor skills.
Respiratory Issues: Such as difficulty breathing or rapid breathing.

Normal Levels

No Defined “Normal Levels”: This test does not provide typical numerical reference ranges; instead, it detects the presence or absence of specific genetic or metabolic disorders.
Negative Results: Indicate that no genetic or metabolic disorders were detected, suggesting the baby is healthy.
Positive Results: Indicate a possible disorder, requiring further confirmatory testing.

Frequently Asked Questions

Short answers to the FAQs published with this service.

What is newborn screening?

It is a test performed on newborns to detect genetic and metabolic disorders early.

How is the test performed?

A small blood sample is taken from the baby, usually from the heel, and analyzed in the laboratory.

How long do the results take?

Results are usually available within a few days.

Does the test require any special preparation?

No special preparation is typically needed, but it is preferred to perform it after 24 hours of birth.

Newborn Screening - Type 1

About this service

Purpose Test

Recommended groups

Symptoms indicative

Normal Levels

What is included?

Conditions and notices

Frequently Asked Questions

References and additional resources

Scientific references

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