MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic DNA Test

MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic DNA Test

Disease: Metabolic Disorders

Method: NGS Technology

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Sample Types
  • Blood or Extracted DNA or One drop Blood on FTA Card

20,000.00/- Rs ₹28,000.0028% off

  • Results in : 3 to 4 Weeks

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MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic DNA Test Cost 20000 Rs


Test Name MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic DNA Test
Test type General Physician
Pre-test Information Clinical History of Patient who is going for MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylmalonic aciduria CblC type
Report Delivery 3 to 4 Weeks
Components
Price ₹ 20000
Method NGS Technology

MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic DNA Test Details


Short Description

NGS genetic DNA test detecets for variant and mutation detection in MMACHC gene for Methylmalonic aciduria CblC type

Test Specifications

  • Speciality: General Physician

  • Components:

  • Department: Genetics

  • Shipping Stability: Ambient Room Temperature

PreTest Information

Clinical History of Patient who is going for MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylmalonic aciduria CblC type

Detail Description

MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

MMACHC Gene Methylmalonic aciduria CblC type is a rare genetic disorder that affects the body's ability to break down certain amino acids and fatty acids. It is caused by mutations in the MMACHC gene and can lead to a buildup of toxic substances in the body. The disorder can cause a range of symptoms, including developmental delays, seizures, and anemia.

Diagnosis of MMACHC Gene Methylmalonic aciduria CblC type can be challenging, as symptoms can vary widely and may be mistaken for other conditions. However, genetic testing can help identify the specific mutation causing the disorder.

NGS Genetic DNA Test for MMACHC Gene Methylmalonic aciduria CblC type

NGS (Next Generation Sequencing) Genetic DNA Test is a highly accurate and advanced method of genetic testing that can identify mutations in the MMACHC gene. This type of testing can provide a more complete picture of an individual's genetic makeup and can help identify the specific mutation causing the disorder.

The cost of the NGS Genetic DNA Test for MMACHC Gene Methylmalonic aciduria CblC type is INR 20000. This cost may vary depending on the testing facility and any additional services that may be required.

Symptoms of MMACHC Gene Methylmalonic aciduria CblC type

The symptoms of MMACHC Gene Methylmalonic aciduria CblC type can vary widely and may include:

  • Developmental delays
  • Seizures
  • Anemia
  • Muscle weakness
  • Poor appetite
  • Vomiting
  • Enlarged liver
  • Enlarged spleen

These symptoms can be present from birth or may develop later in life. The severity of symptoms can also vary widely, from mild to life-threatening.

Diagnosis of MMACHC Gene Methylmalonic aciduria CblC type

Diagnosis of MMACHC Gene Methylmalonic aciduria CblC type can be challenging, as symptoms can vary widely and may be mistaken for other conditions. However, genetic testing can help identify the specific mutation causing the disorder.

Other diagnostic tests that may be used include:

  • Blood tests to measure levels of certain amino acids and fatty acids
  • Urine tests to measure levels of certain amino acids and fatty acids
  • MRI or CT scans to evaluate brain and organ function

If you or a loved one is experiencing symptoms of MMACHC Gene Methylmalonic aciduria CblC type, it is important to speak with a healthcare professional as soon as possible. Early diagnosis and treatment can help improve outcomes and quality of life.

Conclusion

MMACHC Gene Methylmalonic aciduria CblC type is a rare genetic disorder that can cause a range of symptoms, including developmental delays, seizures, and anemia. Diagnosis can be challenging, but genetic testing can help identify the specific mutation causing the disorder. The cost of the NGS Genetic DNA Test for MMACHC Gene Methylmalonic aciduria CblC type is INR 20000.

If you suspect that you or a loved one may have MMACHC Gene Methylmalonic aciduria CblC type, it is important to speak with a healthcare professional as soon as possible. Early diagnosis and treatment can help improve outcomes and quality of life.

Frequently Asked Questions

  • What is the cost of MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic DNA Test?

    Cost of MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic DNA Test is 20000 Rs

₹20,000.00 ₹28,000.0028% off

Book Now
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  • Ranked India No1 DNA Test Lab
  • Most Trusted Lab by doctors
  • 100% Accurate Test Results