GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic DNA Test

GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic DNA Test

Disease: Neurological Disorders

Method: NGS Technology

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

20,000.00/- Rs ₹28,000.0028% off

  • Results in : 3 to 4 Weeks

Why to get tested at DNA Labs India for GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic DNA Test ?

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GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic DNA Test Cost 20000 Rs


Test Name GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic DNA Test
Test type Neurologist
Pre-test Information Clinical History of Patient who is going for GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B
Report Delivery 3 to 4 Weeks
Components
Price ₹ 20000
Method NGS Technology

GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic DNA Test Details


Short Description

NGS genetic DNA test detecets for variant and mutation detection in GCH1 gene for Hyperphenylalaninemia, BH4-deficient, B

Test Specifications

  • Speciality: Neurologist

  • Components:

  • Department: Genetics

  • Shipping Stability: Ambient Room Temperature

PreTest Information

Clinical History of Patient who is going for GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B

Detail Description

GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Hyperphenylalaninemia is a genetic disorder that affects the metabolism of the amino acid phenylalanine. It can lead to a buildup of phenylalanine in the body, which can cause damage to the brain and nervous system. There are several types of hyperphenylalaninemia, including GCH1 gene hyperphenylalaninemia, BH4-deficient, and B NGS genetic DNA test.

Symptoms of GCH1 Gene Hyperphenylalaninemia

The symptoms of GCH1 gene hyperphenylalaninemia can vary depending on the severity of the condition. Some people may have no symptoms at all, while others may experience developmental delays, seizures, and intellectual disability. Other symptoms may include:

  • Abnormal muscle movements
  • Difficulty with coordination and balance
  • Behavioral problems
  • Hyperactivity
  • Skin rashes

Diagnosis of GCH1 Gene Hyperphenylalaninemia

GCH1 gene hyperphenylalaninemia is typically diagnosed through a blood test that measures the level of phenylalanine in the blood. Genetic testing may also be used to confirm the diagnosis and identify the specific genetic mutation responsible for the condition.

BH4-deficient Hyperphenylalaninemia

BH4-deficient hyperphenylalaninemia is a type of hyperphenylalaninemia that is caused by a deficiency of tetrahydrobiopterin (BH4), a cofactor required for the metabolism of phenylalanine. Symptoms of BH4-deficient hyperphenylalaninemia can include developmental delays, seizures, and intellectual disability.

B NGS Genetic DNA Test

B NGS genetic DNA testing is a type of genetic test that uses next-generation sequencing (NGS) technology to analyze the DNA sequence of an individual. This type of testing can be used to identify genetic mutations that are associated with hyperphenylalaninemia, including GCH1 gene hyperphenylalaninemia and BH4-deficient hyperphenylalaninemia.

Cost of B NGS Genetic DNA Test

The cost of B NGS genetic DNA testing for hyperphenylalaninemia can vary depending on the provider and location. In India, the cost of the test is typically around INR 20,000.

Conclusion

GCH1 gene hyperphenylalaninemia, BH4-deficient hyperphenylalaninemia, and B NGS genetic DNA testing are important topics for individuals and families affected by hyperphenylalaninemia. Early diagnosis and treatment can help prevent or minimize the symptoms of the condition, and genetic testing can provide valuable information for families planning for the future. If you or someone you know is affected by hyperphenylalaninemia, talk to a healthcare provider or genetic counselor to learn more about testing and treatment options.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic DNA Test

Frequently Asked Questions

  • What is the cost of GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic DNA Test?

    Cost of GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic DNA Test is 20000 Rs

₹20,000.00 ₹28,000.0028% off

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