Sale!

C12ORF65 Gene Combined oxidative phosphorylation deficiency type 7 Genetic Test Cost

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

-21%

The C12ORF65 gene plays a critical role in the proper functioning of the mitochondrial translation machinery, which is essential for the synthesis of proteins involved in oxidative phosphorylation. Mutations in this gene can lead to Combined Oxidative Phosphorylation Deficiency Type 7 (COXPD7), a rare genetic disorder characterized by a wide range of symptoms, including muscle weakness, neurological deficits, and developmental delays, among others. Early and accurate diagnosis of COXPD7 is crucial for managing the symptoms and improving the quality of life of affected individuals.

DNA Labs UAE offers a genetic test specifically designed to identify mutations in the C12ORF65 gene, aiding in the diagnosis of COXPD7. The test is conducted using a sample of the patient’s DNA, usually obtained through a blood draw or a cheek swab. The procedure involves analyzing the genetic material for specific mutations known to be associated with the condition.

The cost of the C12ORF65 gene test at DNA Labs UAE is 4400 AED. This comprehensive test is a critical tool for healthcare providers in diagnosing Combined Oxidative Phosphorylation Deficiency Type 7, allowing for timely intervention and management strategies tailored to the individual’s specific needs. By offering this test, DNA Labs UAE contributes to the enhanced understanding and treatment of rare genetic disorders, supporting patients and their families in navigating these challenging conditions.

Description

C12ORF65 Gene Combined oxidative phosphorylation deficiency type 7 Genetic Test

Test Name: C12ORF65 Gene Combined oxidative phosphorylation deficiency type 7 Genetic Test

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

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 C12ORF65 Gene Combined oxidative phosphorylation deficiency type 7 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 7.

Test Details: The C12ORF65 gene is associated with a rare genetic disorder called Combined Oxidative Phosphorylation Deficiency Type 7 (COXPD7). This disorder affects the mitochondria, which are responsible for producing energy in the form of ATP. COXPD7 is characterized by a wide range of symptoms that can vary in severity. Some common symptoms include muscle weakness, developmental delay, intellectual disability, seizures, and respiratory problems. These symptoms are often present from infancy or early childhood. To diagnose COXPD7, a Next-Generation Sequencing (NGS) genetic test can be performed. This test analyzes the DNA sequence of the C12ORF65 gene to identify any mutations or abnormalities. NGS technology allows for the simultaneous analysis of multiple genes, making it a useful tool for diagnosing genetic disorders like COXPD7. If a mutation is identified in the C12ORF65 gene, it confirms a diagnosis of COXPD7. Genetic testing can also be useful for carrier testing in families with a known history of the disorder or for prenatal testing in pregnancies at risk. It’s important to note that COXPD7 is a rare disorder, and genetic testing should be conducted by a healthcare professional with expertise in genetics. Genetic counseling is also recommended to help individuals and families understand the implications of the test results and to discuss potential treatment options and management strategies.

Test Name	C12ORF65 Gene Combined oxidative phosphorylation deficiency type 7 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 C12ORF65 Gene Combined oxidative phosphorylation deficiency type 7 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 7
Test Details	The C12ORF65 gene is associated with a rare genetic disorder called Combined Oxidative Phosphorylation Deficiency Type 7 (COXPD7). This disorder affects the mitochondria, which are responsible for producing energy in the form of ATP. COXPD7 is characterized by a wide range of symptoms that can vary in severity. Some common symptoms include muscle weakness, developmental delay, intellectual disability, seizures, and respiratory problems. These symptoms are often present from infancy or early childhood. To diagnose COXPD7, a Next-Generation Sequencing (NGS) genetic test can be performed. This test analyzes the DNA sequence of the C12ORF65 gene to identify any mutations or abnormalities. NGS technology allows for the simultaneous analysis of multiple genes, making it a useful tool for diagnosing genetic disorders like COXPD7. If a mutation is identified in the C12ORF65 gene, it confirms a diagnosis of COXPD7. Genetic testing can also be useful for carrier testing in families with a known history of the disorder or for prenatal testing in pregnancies at risk. It’s important to note that COXPD7 is a rare disorder, and genetic testing should be conducted by a healthcare professional with expertise in genetics. Genetic counseling is also recommended to help individuals and families understand the implications of the test results and to discuss potential treatment options and management strategies.