Neonatal Screening (Total Galactose) - Test Price, Normal Range | Sprint Diagnostics Hyderabad

Patient Preparing : No specific fasting, water consumption, or preparation is required for this test. Your healthcare provider will collect a small sample of blood, typically from a heel prick in newborns.

₹ 450

Neonatal screening for total galactose is a critical test performed on newborns to identify galactosemia, a rare but serious inherited disorder. Galactosemia is a metabolic condition that affects the body's ability to process a simple sugar called galactose, found primarily in milk and all foods that contain milk. If left undiagnosed and untreated, galactosemia can lead to serious complications such as liver disease, intellectual disability, kidney damage, and even death.

The test measures the total galactose level in a baby's blood. Higher than normal levels of galactose can indicate the possibility of galactosemia. Early detection allows for immediate intervention, typically in the form of a galactose-free diet, which can prevent the severe complications associated with this condition. The test is typically conducted as part of a broader newborn screening panel a few days after birth.

Test Name Neonatal Screening (Total Galactose) - Patient Education Guide
Sample Type Blood
Preparations Required No specific fasting, water consumption, or preparation is required for this test. Your healthcare provider will collect a small sample of blood, typically from a heel prick in newborns.
Report Time 3 Days
Price in Hyderabad ₹ 450

Why is neonatal screening for total galactose important?

This screening is vital because it can detect galactosemia, a potentially life-threatening condition, at an early stage. Early diagnosis allows for immediate treatment, significantly improving the health outcomes for the child.

What happens if galactosemia is not detected early?

Untreated galactosemia can lead to severe complications such as liver damage, kidney failure, cataracts, and severe intellectual disability. These symptoms can begin to occur just a few days after a baby ingests galactose, usually through breast milk or formula.

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How is the test performed?

The test is performed by taking a small blood sample from the baby's heel. The sample is then analyzed in a laboratory to measure the total galactose levels.

Is the heel prick painful for the baby?

The baby may feel a quick prick or sting, but the pain is minimal and subsides quickly.

Are there any risks associated with the heel prick procedure?

The risks associated with a heel prick are minimal. There may be slight discomfort, and occasionally a small bruise may form at the site of the prick.

How long does it take to get the results?

The results are usually available within 48-72 hours.

What do the results mean?

Higher than normal levels of galactose can indicate the possibility of galactosemia. If the results are abnormal, further testing will be done to confirm the diagnosis.

What is the treatment for galactosemia?

The primary treatment for galactosemia is a strict lifelong diet that avoids all sources of galactose, which means excluding all milk and milk products. This helps to control the galactose levels in the body.

Can galactosemia be cured?

While there is no cure for galactosemia, the condition can be managed with a strict galactose-free diet, allowing those affected to lead healthy lives.

Can adults have galactosemia?

While galactosemia is a genetic disorder that is present at birth, some adults with mild forms of the disorder may not be diagnosed until later in life. Adults with galactosemia must also follow a strict galactose-free diet.

How is galactosemia inherited?

Galactosemia is an autosomal recessive genetic disorder, which means that both copies of the gene in each cell must have mutations for the disorder to develop.

Can a baby with galactosemia breastfeed?

Babies with galactosemia should not breastfeed due to lactose in human milk which breaks down into galactose. They should be fed a special lactose-free formula.

Are there any potential complications from galactosemia later in life?

Yes, even with treatment, individuals with galactosemia may experience long-term complications such as speech difficulties, learning disabilities, neurological issues, and in females, ovarian failure.

How common is galactosemia?

Galactosemia is a rare disorder, affecting approximately 1 in every 30,000 to 60,000 newborns.

Are there support groups or resources for families with a child with galactosemia?

Yes, there are many organizations and online communities that offer support, resources, and information for families affected by galactosemia.

Can a baby with galactosemia have a normal lifespan?

Yes, with early diagnosis and proper management of diet, a baby with galactosemia can have a normal lifespan. However, they may have some long-term complications and need to continue their special diet throughout their life.

Can a person with galactosemia tolerate any amount of galactose?

Most people with galactosemia need to follow a strict galactose-free diet, as even small amounts of galactose can cause damage. However, individual tolerance may vary and should be discussed with a healthcare provider.

Can galactosemia be detected before birth?

Yes, prenatal testing methods such as amniocentesis and chorionic villus sampling (CVS) can be used to test for galactosemia if there is a known risk, such as a family history of the condition.

Can galactosemia affect a person's ability to have children?

Females with classic galactosemia often experience ovarian failure, which can make it more difficult to have children. Men typically have normal fertility.

Is there ongoing research for better treatments or a cure for galactosemia?

Yes, research is being conducted in various areas, including understanding more about the genetic and biochemical aspects of the condition and developing new treatments or dietary strategies. Potential future therapies such as gene therapy are also being investigated.

Can the siblings of a baby with galactosemia also have the condition?

If both parents are carriers of a gene mutation for galactosemia, each of their children has a 25% chance of having the condition, a 50% chance of being a carrier, and a 25% chance of neither having the condition nor being a carrier.

Can the parents of a baby with galactosemia have the condition?

Most often, parents of a baby with galactosemia are carriers of the condition but do not have the condition themselves. This is because galactosemia is an autosomal recessive condition, which means both copies of the gene in each cell must have mutations for the disorder to develop.

How often should a person with galactosemia have check-ups?

A person with galactosemia should have regular check-ups to monitor their condition and to adjust their treatment as needed. The frequency of these check-ups will depend on the individual's age and health status.

Can a person with galactosemia live a normal life?

With early diagnosis and strict adherence to a galactose-free diet, a person with galactosemia can lead a relatively normal life. However, they may have some long-term complications and will need to manage their condition throughout their life.

Is galactosemia the same as lactose intolerance?

No, galactosemia and lactose intolerance are not the same. Galactosemia is a genetic disorder that affects the body's ability to convert galactose into glucose, leading to a buildup of galactose. Lactose intolerance is the inability to digest lactose, the main sugar found in milk and dairy products. It's usually caused by a deficiency of the enzyme lactase.

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