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PHYH Gene Refsum Disease Genetic Test Cost

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

-21%

The PHYH Gene Refsum Disease Genetic Test is a specialized diagnostic assessment available at DNA Labs UAE, designed to detect mutations in the PHYH gene, which are indicative of Refsum Disease. This rare genetic disorder disrupts the normal breakdown of phytanic acid, a type of fatty acid found in the diet, leading to its accumulation in the body. The accumulation can cause a variety of symptoms, including vision and hearing loss, impaired coordination, and muscle weakness. The test, priced at 4400 AED, involves analyzing the patient’s DNA to identify any genetic variations in the PHYH gene that are known to cause the condition. Early detection through this genetic testing is crucial for managing symptoms and preventing the progression of the disease. DNA Labs UAE provides this service with the aim of offering precise diagnostics to facilitate targeted interventions for individuals at risk of or suspected to have Refsum Disease.

Description

PHYH Gene Refsum disease Genetic Test

Components: Gene Refsum disease, also known as phytanic acid storage disease or PHYH deficiency, is a rare genetic disorder characterized by the accumulation of phytanic acid in the body. This accumulation is caused by a deficiency in the enzyme phytanoyl-CoA hydroxylase (PHYH), which is responsible for breaking down phytanic acid.

Test Name: PHYH Gene Refsum disease Genetic Test

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 PHYH Gene Refsum disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Refsum disease.

Test Details: NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses high-throughput sequencing technologies to rapidly sequence large amounts of DNA. This technique allows for the simultaneous analysis of multiple genes, making it useful for diagnosing genetic disorders like Gene Refsum disease. NGS genetic testing for Gene Refsum disease involves sequencing the PHYH gene to identify any disease-causing mutations or variants. By analyzing the DNA sequence, this test can determine if there are any changes in the gene that may be responsible for the deficiency in the PHYH enzyme. Genetic testing can help confirm a diagnosis of Gene Refsum disease, provide information about disease severity and progression, and guide treatment decisions. It can also be used for carrier testing and prenatal diagnosis in families with a known genetic mutation. It’s important to note that genetic testing should be performed and interpreted by healthcare professionals with expertise in genetic disorders. Genetic counseling is often recommended before and after genetic testing to discuss the implications of the results and provide support to individuals and families.

Test Name	PHYH Gene Refsum disease 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 PHYH Gene Refsum disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Refsum disease
Test Details	Gene Refsum disease, also known as phytanic acid storage disease or PHYH deficiency, is a rare genetic disorder characterized by the accumulation of phytanic acid in the body. This accumulation is caused by a deficiency in the enzyme phytanoyl-CoA hydroxylase (PHYH), which is responsible for breaking down phytanic acid. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses high-throughput sequencing technologies to rapidly sequence large amounts of DNA. This technique allows for the simultaneous analysis of multiple genes, making it useful for diagnosing genetic disorders like Gene Refsum disease. NGS genetic testing for Gene Refsum disease involves sequencing the PHYH gene to identify any disease-causing mutations or variants. By analyzing the DNA sequence, this test can determine if there are any changes in the gene that may be responsible for the deficiency in the PHYH enzyme. Genetic testing can help confirm a diagnosis of Gene Refsum disease, provide information about disease severity and progression, and guide treatment decisions. It can also be used for carrier testing and prenatal diagnosis in families with a known genetic mutation. It’s important to note that genetic testing should be performed and interpreted by healthcare professionals with expertise in genetic disorders. Genetic counseling is often recommended before and after genetic testing to discuss the implications of the results and provide support to individuals and families.