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BCAT1 Gene Branched-chain aminotransferase 1 deficiency Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The BCAT1 Gene Branched-chain aminotransferase 1 deficiency genetic test is a specialized diagnostic assessment available at DNA Labs UAE. This test is designed to identify deficiencies in the BCAT1 gene, which is crucial for the metabolism of branched-chain amino acids (BCAAs) like leucine, isoleucine, and valine. These amino acids are essential for protein synthesis and energy production in various tissues, including muscle and brain. A deficiency in the BCAT1 gene can lead to metabolic imbalances and a range of health issues, including neurological disorders and delayed development.

The test is conducted through a comprehensive analysis of the patient’s DNA to detect mutations or anomalies in the BCAT1 gene. It is a vital tool for clinicians to diagnose the condition accurately, allowing for personalized treatment plans to manage symptoms and improve the quality of life for affected individuals. The cost of the BCAT1 Gene Branched-chain aminotransferase 1 deficiency genetic test at DNA Labs UAE is 4400 AED. This investment covers the detailed laboratory analysis required to ensure accurate and reliable results, offering invaluable insights into the patient’s genetic health.

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BCAT1 Gene Branched-chain aminotransferase 1 deficiency Genetic Test

Cost: AED 4400.0

Symptoms and Diagnosis

BCAT1 gene (branched-chain aminotransferase 1) deficiency is a rare genetic disorder that affects the metabolism of branched-chain amino acids (BCAAs) in the body. BCAAs are essential amino acids that play a crucial role in protein synthesis and energy production. A deficiency in the BCAT1 gene leads to the impaired breakdown of BCAAs, resulting in their accumulation in the blood and tissues. This accumulation can cause a range of symptoms, including intellectual disability, developmental delay, seizures, poor muscle tone, and other neurological abnormalities.

Test Components

  • Price: AED 4400.0
  • Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
  • Report Delivery: 3 to 4 Weeks
  • Method: NGS Technology
  • Test type: Metabolic Disorders
  • Doctor: General Physician
  • Test Department: Genetics

Pre Test Information

Clinical History of Patient who is going for BCAT1 Gene Branched-chain aminotransferase 1 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Branched-chain aminotransferase 1 deficiency.

Test Details

NGS (next-generation sequencing) genetic testing is a diagnostic tool used to identify mutations or variations in the BCAT1 gene. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of the genetic makeup and identifying potential disease-causing variants. NGS genetic testing for BCAT1 gene deficiency involves obtaining a DNA sample, usually through a blood or saliva sample, and sequencing the entire coding region of the BCAT1 gene. The obtained DNA sequence is then compared to a reference sequence to identify any variations or mutations that may be responsible for the disorder. The results of the NGS genetic test can help confirm a diagnosis of BCAT1 gene deficiency and guide appropriate management and treatment strategies. Genetic counseling is typically recommended to help individuals and families understand the implications of the test results and make informed decisions regarding their health and reproductive options.

Test Name BCAT1 Gene Branched-chain aminotransferase 1 deficiency Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Metabolic Disorders
Doctor General Physician
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for BCAT1 Gene Branched-chain aminotransferase 1 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Branched-chain aminotransferase 1 deficiency
Test Details

BCAT1 gene (branched-chain aminotransferase 1) deficiency is a rare genetic disorder that affects the metabolism of branched-chain amino acids (BCAAs) in the body. BCAAs are essential amino acids that play a crucial role in protein synthesis and energy production.

A deficiency in the BCAT1 gene leads to the impaired breakdown of BCAAs, resulting in their accumulation in the blood and tissues. This accumulation can cause a range of symptoms, including intellectual disability, developmental delay, seizures, poor muscle tone, and other neurological abnormalities.

NGS (next-generation sequencing) genetic testing is a diagnostic tool used to identify mutations or variations in the BCAT1 gene. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of the genetic makeup and identifying potential disease-causing variants.

NGS genetic testing for BCAT1 gene deficiency involves obtaining a DNA sample, usually through a blood or saliva sample, and sequencing the entire coding region of the BCAT1 gene. The obtained DNA sequence is then compared to a reference sequence to identify any variations or mutations that may be responsible for the disorder.

The results of the NGS genetic test can help confirm a diagnosis of BCAT1 gene deficiency and guide appropriate management and treatment strategies. Genetic counseling is typically recommended to help individuals and families understand the implications of the test results and make informed decisions regarding their health and reproductive options.

SKU: TEST-2192 Category:

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