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PEX5 Gene Peroxisome Biogenesis Disorder Type 2A Genetic Test Cost

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

-21%

The PEX5 Gene Peroxisome Biogenesis Disorder Type 2A Genetic Test is a specialized diagnostic tool designed to identify mutations in the PEX5 gene, which are responsible for a rare genetic condition known as Peroxisome Biogenesis Disorder Type 2A (PBD Type 2A), also known as Zellweger syndrome spectrum (ZSS). This condition is characterized by a spectrum of clinical features that can include abnormalities in the brain, liver, and kidneys, as well as developmental delays and distinctive facial features.

The PEX5 gene plays a crucial role in the normal functioning and formation of peroxisomes, cellular structures that are essential for the breakdown of very long-chain fatty acids and the synthesis of certain lipids necessary for brain development and function. Mutations in the PEX5 gene disrupt these processes, leading to the accumulation of harmful substances in the body and the varied symptoms observed in affected individuals.

The test is available at DNA Labs UAE, a leading facility in genetic diagnostics and research. The cost of the PEX5 Gene Peroxisome Biogenesis Disorder Type 2A Genetic Test is set at 4400 AED. The procedure involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory for the presence of mutations in the PEX5 gene. Results from this test can provide crucial information for the diagnosis, management, and genetic counseling of affected families.

Description

PEX5 Gene Peroxisome Biogenesis Disorder Type 2A Genetic Test

Test Name: PEX5 Gene Peroxisome Biogenesis Disorder Type 2A 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: Neurological Disorders

Doctor: Neurologist

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for PEX5 Gene Peroxisome Biogenesis Disorder Type 2A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PEX5 Gene Peroxisome Biogenesis Disorder Type 2A

Test Details:

The PEX5 gene is associated with a disorder called peroxisome biogenesis disorder type 2A (PBD2A). This disorder affects the peroxisomes, which are small structures within cells that play a role in various metabolic processes. PBD2A is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated PEX5 gene (one from each parent) in order to develop the disorder. The condition is characterized by the impaired biogenesis of peroxisomes, leading to a wide range of symptoms including developmental delays, intellectual disability, hearing and vision problems, liver dysfunction, and skeletal abnormalities.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of PBD2A, NGS genetic testing can be used to identify mutations in the PEX5 gene. This can help confirm a diagnosis of PBD2A and provide valuable information for genetic counseling and management of the condition.

It is important to note that genetic testing for PBD2A should be performed by a qualified healthcare professional or genetic counselor, who can interpret the results and provide appropriate guidance and support.

Test Name	PEX5 Gene Peroxisome biogenesis disorder type 2A Genetic Test
Components
Price	4400.0 AED
Sample Condition	Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery	3 to 4 Weeks
Method	NGS Technology
Test type	Neurological Disorders
Doctor	Neurologist
Test Department:	Genetics
Pre Test Information	Clinical History of Patient who is going for PEX5 Gene Peroxisome biogenesis disorder type 2A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PEX5 Gene Peroxisome biogenesis disorder type 2A
Test Details	The PEX5 gene is associated with a disorder called peroxisome biogenesis disorder type 2A (PBD2A). This disorder affects the peroxisomes, which are small structures within cells that play a role in various metabolic processes. PBD2A is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated PEX5 gene (one from each parent) in order to develop the disorder. The condition is characterized by the impaired biogenesis of peroxisomes, leading to a wide range of symptoms including developmental delays, intellectual disability, hearing and vision problems, liver dysfunction, and skeletal abnormalities. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of PBD2A, NGS genetic testing can be used to identify mutations in the PEX5 gene. This can help confirm a diagnosis of PBD2A and provide valuable information for genetic counseling and management of the condition. It is important to note that genetic testing for PBD2A should be performed by a qualified healthcare professional or genetic counselor, who can interpret the results and provide appropriate guidance and support.