Fragile X Syndrome (FMR1) detection by PCR

Fragile X Syndrome (FMR1) detection by PCR

Disease: Genetics

Method: End Point PCR

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Sample Types
  • Peripheral blood

8,000.00/- Rs ₹10,000.0020% off

  • Results in : 3-4 days

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Fragile X Syndrome (FMR1) detection by PCR Cost 8000 Rs


Test Name Fragile X Syndrome (FMR1) detection by PCR
Test type General Physician
Pre-test Information Fragile X Syndrome (FMR1) detection by PCR can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.
Report Delivery 3-4 days
Components EDTA Vacutainer (2ml)
Price ₹ 8000
Method End Point PCR

Fragile X Syndrome (FMR1) detection by PCR Details


Short Description

Fragile X Syndrome (FMR1) detection by PCR is performed using End Point PCR methodology. Sample that have to be given is Peripheral blood in EDTA Vacutainer (2ml) for this test. You can expect results in 3-4 days

Test Specifications

  • Speciality: General Physician

  • Components: EDTA Vacutainer (2ml)

  • Department:

  • Shipping Stability: Ambient

PreTest Information

Fragile X Syndrome (FMR1) detection by PCR can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

Fragile X Syndrome (FMR1) Detection by PCR

Fragile X Syndrome (FXS) is a genetic condition that causes intellectual and developmental disabilities. It is caused by a mutation in the FMR1 gene on the X chromosome. The mutation causes the gene to not produce enough of a protein that is important for brain development, leading to FXS.

FXS is the most common inherited cause of intellectual disability and affects both males and females, although males are more severely affected. The syndrome can also cause physical characteristics such as large ears and a long face.

Symptoms of FXS

The symptoms of FXS can vary from person to person, but common symptoms include:

  • Intellectual disability
  • Delayed speech and language development
  • Behavioral problems such as hyperactivity and anxiety
  • Sensory processing disorders
  • Physical characteristics such as long face, large ears, and flexible joints

Diagnosis of FXS

FXS can be diagnosed through genetic testing, specifically a polymerase chain reaction (PCR) test. This test looks for changes in the FMR1 gene and can determine whether a person has the mutation that causes FXS.

The PCR test is a highly accurate and reliable way to diagnose FXS. It can be done on a blood sample or a cheek swab and usually takes about two weeks to get results.

Cost of FXS Detection by PCR

The cost of FXS detection by PCR in India is typically around INR 8000. However, the cost can vary depending on the laboratory and location.

Conclusion

FXS is a genetic condition that causes intellectual and developmental disabilities. It can be diagnosed through genetic testing, specifically a PCR test, which is highly accurate and reliable. The cost of FXS detection by PCR in India is typically around INR 8000. If you suspect that you or a loved one may have FXS, it is important to speak with a healthcare professional and consider genetic testing.

At DNA Labs India, we offer a range of genetic testing services, including FXS detection by PCR. Our team of experts is dedicated to providing accurate and reliable results to help you make informed decisions about your health. Contact us today to learn more about our services.

Frequently Asked Questions

  • What is the cost of Fragile X Syndrome (FMR1) detection by PCR?

    Cost of Fragile X Syndrome (FMR1) detection by PCR is 8000 Rs

  • What is Fragile X Syndrome?

    Fragile X syndrome (FXS) is a genetic disorder. FXS is caused by changes in a gene that scientists called the FMR1 gene when it was first discovered. The FMR1 gene usually makes a protein called FMRP. FMRP is needed for brain development.

  • What Are the Symptoms of Fragile X?

    There are several, including:

    • Trouble learning skills like sitting, crawling or walking
    • Problems with language and speech
    • Hand-flapping and not making eye contact Temper tantrums
    • Poor impulse control Anxiety
    • Extreme sensitivity to light or sound
    • Hyperactivity and trouble paying attention
    • Aggressive and self-destructive behaviour in boys
  • How Is It Diagnosed?

    Amniocentesis -- doctors check a sample of amniotic fluid for the FMR1 gene change

    Chorionic villus sampling (CVS) -- doctors test a sample of cells from the placenta to check for the FMR1 gene. Babies born with fragile X syndrome don't always show signs of it. The doctor might notice that the baby's head is larger than usual. As the child gets older, learning and behaviour problems can start.

  • What Causes It?

    The FMR1 gene, which is on the X chromosome, makes a protein called FMR that helps nerve cells talk to one another. A child needs this protein for their brain to develop normally. Children with fragile X make too little or none of it. 

  • What's the Treatment?

    No medicine can cure fragile X. Treatments can help your child learn more easily and manage problem behaviours. Options include:

    • Special education to help with learning
    • Speech and language therapy Occupational therapy
    • Behaviour therapy
    • Medicines to prevent seizures
  • Management of fragile X syndrome

    Routine care involves treating the medical problems that these patients commonly experience, including gastroesophageal reflux, sinusitis, and otitis media. During infant and early childhood healthcare maintenance visits, focus the examination on possible hip dislocations, hernias, and hypotonia. 

  • What is the cost of Fragile X Syndrome?

    Fragile X Syndrome costs 7000 Rs

  • How many days does it take for reports?

    Reports take 8-10 working days

₹8,000.00 ₹10,000.0020% off

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