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CPT1A Gene Carnitine palmitoyltransferase 1A deficiency Genetic Test Cost

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

-21%

The CPT1A Gene Carnitine Palmitoyltransferase 1A Deficiency Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE, designed to detect mutations in the CPT1A gene. This gene plays a crucial role in the metabolism of long-chain fatty acids, enabling their transport into mitochondria for energy production. Mutations in the CPT1A gene can lead to Carnitine Palmitoyltransferase 1A deficiency, a rare metabolic disorder that impairs the body’s ability to convert certain fats into energy, particularly during periods of fasting or illness.

This genetic test is vital for early detection and management of the condition, helping to prevent potential complications such as hypoketotic hypoglycemia, liver dysfunction, and neurodevelopmental issues. The test involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in the laboratory to identify any mutations in the CPT1A gene.

The cost of the CPT1A Gene Carnitine Palmitoyltransferase 1A Deficiency Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis necessary to accurately diagnose this condition, offering essential information for affected individuals and their families to manage the disorder effectively. Early diagnosis and intervention can significantly improve the quality of life for those with Carnitine Palmitoyltransferase 1A deficiency, making this test a critical resource for at-risk populations.

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CPT1A Gene Carnitine palmitoyltransferase 1A deficiency Genetic Test

Test Name: CPT1A Gene Carnitine palmitoyltransferase 1A deficiency Genetic Test

Components: Blood or Extracted DNA or One drop Blood on FTA Card

Price: 4400.0 AED

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 CPT1A Gene Carnitine palmitoyltransferase 1A deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Carnitine palmitoyltransferase 1A deficiency.

Test Details

CPT1A gene (Carnitine palmitoyltransferase 1A) deficiency is a genetic disorder that affects the body’s ability to convert long-chain fatty acids into energy. This deficiency can lead to a buildup of fatty acids in tissues and organs, particularly in the liver, heart, and muscles.

NGS (Next-Generation Sequencing) Genetic Test is a diagnostic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the context of CPT1A deficiency, an NGS genetic test can identify mutations or variations in the CPT1A gene that may be responsible for the disorder. By analyzing the DNA sequence of the CPT1A gene, the NGS genetic test can provide valuable information about the specific genetic variants present in an individual.

This information can help healthcare professionals diagnose CPT1A deficiency and provide appropriate treatment and management strategies. It is important to note that the CPT1A deficiency NGS genetic test is a specialized test that should be ordered and interpreted by a qualified healthcare professional with expertise in genetics. The test results should be used in conjunction with clinical evaluation and other diagnostic tools to make an accurate diagnosis and guide patient care.

Test Name CPT1A Gene Carnitine palmitoyltransferase 1A 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 CPT1A Gene Carnitine palmitoyltransferase 1A deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Carnitine palmitoyltransferase 1A deficiency
Test Details

CPT1A gene (Carnitine palmitoyltransferase 1A) deficiency is a genetic disorder that affects the body’s ability to convert long-chain fatty acids into energy. This deficiency can lead to a buildup of fatty acids in tissues and organs, particularly in the liver, heart, and muscles.

NGS (Next-Generation Sequencing) Genetic Test is a diagnostic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the context of CPT1A deficiency, an NGS genetic test can identify mutations or variations in the CPT1A gene that may be responsible for the disorder.

By analyzing the DNA sequence of the CPT1A gene, the NGS genetic test can provide valuable information about the specific genetic variants present in an individual. This information can help healthcare professionals diagnose CPT1A deficiency and provide appropriate treatment and management strategies.

It is important to note that the CPT1A deficiency NGS genetic test is a specialized test that should be ordered and interpreted by a qualified healthcare professional with expertise in genetics. The test results should be used in conjunction with clinical evaluation and other diagnostic tools to make an accurate diagnosis and guide patient care.