CPT2 Gene Carnitine palmitoyltransferase 2 deficiency lethal neonatal Genetic Test sale cost 4400 AED
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CPT2 Gene Carnitine palmitoyltransferase 2 deficiency lethal neonatal Genetic Test Cost

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

-21%

The CPT2 gene is responsible for the production of the Carnitine Palmitoyltransferase II enzyme, which plays a critical role in the body’s ability to convert fats into energy, particularly during periods of fasting. A deficiency in this enzyme due to mutations in the CPT2 gene can lead to a condition known as Carnitine Palmitoyltransferase II deficiency. This metabolic disorder can manifest in various forms, with the lethal neonatal form being the most severe. Affected infants experience significant health issues soon after birth, including liver dysfunction, cardiovascular problems, and muscle weakness, often leading to fatal outcomes if not promptly diagnosed and treated.

To diagnose this genetic condition, DNA Labs UAE offers a specialized genetic test targeting the CPT2 gene to identify mutations that may lead to Carnitine Palmitoyltransferase II deficiency. The test is crucial for early detection, especially in the neonatal period, allowing for timely intervention and management strategies to be implemented. This test is priced at 4400 AED, reflecting the sophisticated technology and expertise required to accurately identify and interpret genetic mutations associated with this condition. Conducted in a state-of-the-art laboratory setting by qualified geneticists, this test represents a vital tool in the battle against lethal neonatal Carnitine Palmitoyltransferase II deficiency, offering hope for affected families through early diagnosis and the potential for targeted treatment strategies.

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CPT2 Gene Carnitine palmitoyltransferase 2 deficiency lethal neonatal Genetic Test

At DNA Labs UAE, we offer the CPT2 Gene Carnitine palmitoyltransferase 2 deficiency lethal neonatal Genetic Test at a cost of 4400.0 AED. This test is used to diagnose CPT2 deficiency, a rare genetic disorder that affects the body’s ability to break down fats for energy.

Test Details

Carnitine palmitoyltransferase 2 (CPT2) deficiency is caused by mutations in the CPT2 gene, which provides instructions for making an enzyme called carnitine palmitoyltransferase 2. The most severe form of this disorder is lethal neonatal CPT2 deficiency, which is typically diagnosed shortly after birth.

Common symptoms of CPT2 deficiency include low muscle tone, weak cry, poor feeding, respiratory distress, and liver dysfunction. Without prompt treatment, it can be fatal in the neonatal period.

Test Components

  • 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

Before undergoing the CPT2 Gene Carnitine palmitoyltransferase 2 deficiency lethal neonatal Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by Carnitine palmitoyltransferase 2 deficiency.

NGS Technology

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of CPT2 deficiency, NGS can be used to identify mutations in the CPT2 gene that may be responsible for the disorder. This can help confirm the diagnosis and provide information for genetic counseling and family planning.

It’s important to note that the availability and specifics of genetic testing may vary depending on the country and healthcare system. Therefore, it is recommended to consult with a healthcare professional or genetic counselor for more accurate and up-to-date information regarding the specific genetic testing options for CPT2 deficiency.

Test Name CPT2 Gene Carnitine palmitoyltransferase 2 deficiency lethal neonatal 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 CPT2 Gene Carnitine palmitoyltransferase 2 deficiency, lethal neonatal NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Carnitine palmitoyltransferase 2 deficiency, lethal neonatal
Test Details

Carnitine palmitoyltransferase 2 (CPT2) deficiency is a rare genetic disorder that affects the body’s ability to break down fats for energy. It is caused by mutations in the CPT2 gene, which provides instructions for making an enzyme called carnitine palmitoyltransferase 2.

Lethal neonatal CPT2 deficiency is the most severe form of this disorder and is typically diagnosed shortly after birth. It is characterized by a lack of energy production, leading to symptoms such as low muscle tone, weak cry, poor feeding, respiratory distress, and liver dysfunction. Without prompt treatment, it can be fatal in the neonatal period.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of CPT2 deficiency, NGS can be used to identify mutations in the CPT2 gene that may be responsible for the disorder. This can help confirm the diagnosis and provide information for genetic counseling and family planning.

It’s important to note that the availability and specifics of genetic testing may vary depending on the country and healthcare system. Therefore, it is recommended to consult with a healthcare professional or genetic counselor for more accurate and up-to-date information regarding the specific genetic testing options for CPT2 deficiency.

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