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MCCC2 Gene 3-Methylcrontonyl-CoA Carboxylase 2 Deficiency Genetic Test

Name: MCCC2 Gene 3-Methylcrontonyl-CoA Carboxylase 2 Deficiency Genetic Test
SKU: TEST-2135
Price: 4400 AED
Availability: InStock

4,400 د.إ

-21%

The “MCCC2 Gene 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency Genetic Test” is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the MCCC2 gene. These mutations can lead to 3-Methylcrotonyl-CoA Carboxylase 2 deficiency, a rare metabolic disorder that affects the body’s ability to process certain proteins properly. This condition can lead to various health issues, including developmental delay, metabolic acidosis, and in some cases, life-threatening complications if not diagnosed and managed early.

The test involves collecting a DNA sample, usually through a blood draw or cheek swab, and analyzing it for specific genetic alterations associated with the disorder. The goal is to provide a definitive diagnosis, enabling targeted treatment and management plans to improve patient outcomes.

The cost of the MCCC2 Gene 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency Genetic Test at DNA Labs UAE is set at 4400 AED. This investment covers the sophisticated genetic analysis required to detect the presence of mutations in the MCCC2 gene, offering peace of mind and critical health insights for affected individuals and their families.

Description

MCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 deficiency Genetic Test

Test Name: MCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 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 MCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with 3-methylcrontonyl-CoA carboxylase 2 deficiency.

Test Details: MCCC2 gene, also known as 3-methylcrotonyl-CoA carboxylase 2, is responsible for encoding an enzyme that plays a crucial role in the breakdown of certain amino acids. Mutations in this gene can lead to a condition called 3-methylcrotonyl-CoA carboxylase 2 deficiency. 3-methylcrotonyl-CoA carboxylase 2 deficiency is an autosomal recessive disorder characterized by the inability to properly process and metabolize certain amino acids, particularly leucine. This can result in the buildup of toxic byproducts in the body, leading to a range of symptoms such as developmental delays, intellectual disability, feeding difficulties, seizures, and metabolic crises.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze and sequence multiple genes simultaneously. In the context of MCCC2 gene deficiency, NGS genetic testing can identify mutations or variants in the MCCC2 gene that may be responsible for the condition. This type of testing is often used to diagnose genetic disorders and can provide valuable information for treatment and management of the condition.

If you suspect that you or someone you know may have 3-methylcrotonyl-CoA carboxylase 2 deficiency, consulting with a healthcare professional or a genetic counselor is recommended. They can provide more information about the condition, discuss the benefits and limitations of genetic testing, and guide you through the testing process.

Test Name	MCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 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 MCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-methylcrontonyl-CoA carboxylase 2 deficiency
Test Details	MCCC2 gene, also known as 3-methylcrotonyl-CoA carboxylase 2, is responsible for encoding an enzyme that plays a crucial role in the breakdown of certain amino acids. Mutations in this gene can lead to a condition called 3-methylcrotonyl-CoA carboxylase 2 deficiency. 3-methylcrotonyl-CoA carboxylase 2 deficiency is an autosomal recessive disorder characterized by the inability to properly process and metabolize certain amino acids, particularly leucine. This can result in the buildup of toxic byproducts in the body, leading to a range of symptoms such as developmental delays, intellectual disability, feeding difficulties, seizures, and metabolic crises. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze and sequence multiple genes simultaneously. In the context of MCCC2 gene deficiency, NGS genetic testing can identify mutations or variants in the MCCC2 gene that may be responsible for the condition. This type of testing is often used to diagnose genetic disorders and can provide valuable information for treatment and management of the condition. If you suspect that you or someone you know may have 3-methylcrotonyl-CoA carboxylase 2 deficiency, consulting with a healthcare professional or a genetic counselor is recommended. They can provide more information about the condition, discuss the benefits and limitations of genetic testing, and guide you through the testing process.