Mucopolysaccharides Type-1 Test Price, Normal Range | Sprint Diagnostics Hyderabad

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₹ 4950


Mucopolysaccharidosis type I (MPS I) or Hurler's disease is a rare genetic disorder characterized by a deficiency of the enzyme alpha-L-iduronidase, which plays a critical role in the breakdown of specific sugars (glycosaminoglycans or GAGs, also known as mucopolysaccharides) within cells. The buildup of these sugars leads to a variety of symptoms that can affect numerous parts of the body and cause progressive damage.

A blood test for MPS I measures the amount of specific GAGs in the blood and helps in diagnosing the condition. The test is crucial for early detection of the disease, which can enable timely treatment and potentially slow the progression of symptoms. Understanding the specific type of MPS disorder can guide treatment options and provide insights into the patient's prognosis.

Test Name Mucopolysaccharides (MPS) Type-I/ Hurler's Disease (quantitative) - Blood
Sample Type Blood
Preparations Required None
Report Time 6 days
Price in Hyderabad ₹ 4950

Why would my doctor recommend a MPS Type-I blood test?

If your child is showing symptoms that may suggest MPS I, such as developmental delay, coarse facial features, vision and hearing problems, and abnormal bone size or shape, your healthcare provider may recommend a MPS Type-I blood test. The test helps to confirm or rule out a diagnosis of MPS I.

How is the MPS Type-I blood test performed?

The MPS Type-I blood test is performed using a sample of the patient's blood. The blood sample is drawn from a vein in the arm, which is then sent to a laboratory for analysis.

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What does an abnormal MPS Type-I blood test result mean?

An abnormal MPS Type-I blood test result indicates the presence of a higher than normal amount of specific GAGs in the blood. This is suggestive of MPS I. However, additional testing, such as genetic testing or enzyme activity testing, is usually required to confirm the diagnosis.

What treatments are available for MPS I?

While there is no cure for MPS I, treatment options are available that can help manage symptoms and slow disease progression. These may include enzyme replacement therapy, hematopoietic stem cell transplant, and various supportive treatments to manage symptoms.

Is MPS I an inherited disorder?

Yes, MPS I is an inherited genetic disorder. It is passed down in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for a child to be affected.

Can MPS I be prevented?

As a genetic disorder, MPS I cannot be prevented. However, genetic counseling can provide valuable information for prospective parents who have a family history of MPS or are known carriers of the disorder.

How common is MPS I?

MPS I is a rare disorder. It is estimated to occur in approximately 1 in 100,000 to 1 in 150,000 newborns worldwide.

Can adults be diagnosed with MPS I?

While MPS I is typically diagnosed in infancy or early childhood, milder forms of the condition may not become apparent until later in life. In these cases, diagnosis in adults is possible.

What are the potential complications of MPS I?

MPS I can lead to a variety of complications, depending on the severity of the disease. These may include developmental delay, organ damage, skeletal deformities, vision and hearing loss, and cardiovascular problems.

How can I manage my child's symptoms if they have MPS I?

Management of MPS I involves a multidisciplinary approach with a team of healthcare professionals. This may include enzyme replacement therapy or hematopoietic stem cell transplant, along with supportive therapies to manage specific symptoms, such as physical therapy, occupational therapy, and speech therapy.

Is there a cure for MPS I?

Currently, there is no cure for MPS I. However, research is ongoing to find new treatments and potentially a cure for this condition.

What is the long-term outlook for someone with MPS I?

The prognosis for MPS I varies depending on the specific form of the disorder. With early diagnosis and treatment, individuals with milder forms of the disorder can live well into adulthood, while those with severe forms may have significantly shortened lifespans.

Is there any support available for families dealing with MPS I?

Yes, there are several organizations and support groups available for families affected by MPS I. These groups can provide valuable resources and support for coping with the physical, emotional, and financial challenges of managing MPS I.

Can a carrier of MPS I exhibit symptoms?

No, carriers of MPS I do not typically exhibit symptoms of the disorder. However, they have a 25% chance of passing the disorder to each of their children if their partner is also a carrier.

How can genetic counseling benefit families affected by MPS I?

Genetic counseling can provide families with important information about MPS I, including the risk of recurrence in future pregnancies and available options for prenatal testing. A genetic counselor can also provide support and resources to help families navigate the complexities of living with a genetic disorder.

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