DMD Test (Duchenne Muscular Dystrophy) - Amniotic Fluid - Price, Normal Range | Sprint Diagnostics Hyderabad

Patient Preparing : This test requires a sample of amniotic fluid, which must be collected by a healthcare professional through amniocentesis.

₹ 6500

Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by mutations in the DMD gene, which is responsible for the production of dystrophin, a protein essential for muscle integrity. The DMD Test for amniotic fluid is utilized to detect mutations in the DMD gene in fetuses during pregnancy. The test is performed on a sample of amniotic fluid, which is the fluid surrounding a fetus in the womb. This form of testing is known as prenatal diagnosis and is vital for families with a history of DMD to make informed decisions regarding the pregnancy.

Since DMD is an X-linked recessive disorder, it primarily affects males. Early diagnosis through prenatal testing allows parents and healthcare providers to plan for the management of the disorder and make decisions regarding the pregnancy.

Test Name DMD Test (Duchenne Muscular Dystrophy) - Amniotic Fluid
Sample Type Amniotic Fluid
Preparations Required This test requires a sample of amniotic fluid, which must be collected by a healthcare professional through amniocentesis.
Report Time 10 days
Price ₹ 6500

What is the DMD Test for Amniotic Fluid?

This is a prenatal diagnostic test that analyzes a sample of amniotic fluid to detect mutations in the DMD gene, which causes Duchenne Muscular Dystrophy.

Why is this test done?

This test is performed to determine if a fetus has Duchenne Muscular Dystrophy, especially in cases where there is a known family history of DMD.

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How is the sample collected?

The sample of amniotic fluid is collected through a procedure called amniocentesis, where a needle is inserted into the uterus to withdraw a small amount of amniotic fluid.

What are the risks of amniocentesis?

Amniocentesis is considered safe but carries minimal risks such as infection, leakage of amniotic fluid, and miscarriage. It’s important to discuss these risks with the healthcare provider.

How is Duchenne Muscular Dystrophy inherited?

DMD is an X-linked recessive disorder. Males inherit the mutated gene from their mothers, who are usually carriers of the mutated gene.

Can the test predict the severity of DMD?

This test identifies the presence of mutations but does not predict the severity of the condition. The clinical presentation of DMD can vary among individuals.

What are the options if the test is positive for DMD?

If the test is positive for DMD, counseling with a genetic counselor and healthcare provider is essential to discuss the options, which may include continuing the pregnancy with a plan for management or considering termination.

Is there a cure for Duchenne Muscular Dystrophy?

There is no cure for DMD. Management focuses on alleviating symptoms, improving quality of life, and slowing the progression of the disease.

What treatments are available for managing DMD?

Treatments for DMD include medications such as corticosteroids, physical therapy, respiratory support, and surgical interventions when necessary.

Can carrier mothers of DMD have healthy children?

Carrier mothers have a 50% chance of passing the mutated gene to their children. With prenatal testing and counseling, families can make informed reproductive decisions.

Are there support groups for families affected by DMD?

Yes, there are several organizations and support groups such as the Muscular Dystrophy Association that provide resources and support to families affected by DMD.

What is the benefit of early diagnosis?

Early diagnosis allows for early intervention and management, as well as informed family planning and preparation for the challenges associated with DMD.

What are the long-term implications of DMD?

DMD leads to progressive muscle weakness affecting mobility and respiratory function. The condition often results in a shortened lifespan.

Can females be affected by DMD?

Females can be carriers of DMD, and in rare cases, they may exhibit mild symptoms of the disease.

Can advancements in science lead to a cure for DMD?

Research into DMD is ongoing, and advancements in gene therapy and other treatments provide hope for future curative therapies.

The genetic status of a fetus regarding Duchenne Muscular Dystrophy allows families to make informed decisions and prepare for the future. While there is no cure for DMD, early detection and intervention can significantly impact the quality of life of affected individuals. Families with a history of DMD should consult with healthcare professionals and genetic counselors to understand the implications and options associated with prenatal diagnosis through amniotic fluid testing. It’s essential for those families to know that they are not alone and that support and resources are available to assist them in navigating the challenges associated with Duchenne Muscular Dystrophy.

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