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PEX1 Gene Peroxisome Biogenesis Disorder Type 1B Genetic Test Cost

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

-21%

The PEX1 Gene Peroxisome Biogenesis Disorder Type 1B Genetic Test is a specialized diagnostic assessment available at DNA Labs UAE, designed to detect mutations in the PEX1 gene, which are linked to Peroxisome Biogenesis Disorder Type 1B (PBD-ZSD). This condition is part of a spectrum of disorders that affect the normal function and formation of peroxisomes, cellular structures essential for various metabolic processes, including the breakdown of fatty acids and the detoxification of hydrogen peroxide.

Mutations in the PEX1 gene disrupt these critical functions, leading to a wide range of symptoms such as developmental delays, vision and hearing impairments, liver dysfunction, and abnormalities in bone formation. Early and accurate diagnosis through this genetic test can be crucial for managing symptoms, planning treatment strategies, and providing genetic counseling for affected families.

The test is conducted through a blood sample or cheek swab, utilizing advanced genetic sequencing techniques to identify mutations in the PEX1 gene. The cost of the test is 4400 AED, reflecting the comprehensive analysis and the specialized expertise required to interpret the results accurately. By opting for this test at DNA Labs UAE, patients and their families gain access to crucial information that can guide medical and lifestyle decisions, enhancing the quality of life for those affected by Peroxisome Biogenesis Disorder Type 1B.

Description

PEX1 Gene Peroxisome Biogenesis Disorder Type 1B Genetic Test

Test Name: PEX1 Gene Peroxisome Biogenesis Disorder Type 1B Genetic Test

Components: PEX1 gene analysis

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 PEX1 Gene Peroxisome Biogenesis Disorder Type 1B NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PEX1 Gene Peroxisome Biogenesis Disorder Type 1B.

Test Details:

The PEX1 gene is associated with a rare genetic disorder known as peroxisome biogenesis disorder type 1B (PBD1B). This disorder affects the peroxisomes, which are small organelles involved in various metabolic processes in the cell.

PBD1B is an autosomal recessive disorder, meaning that an individual must inherit two mutated copies of the PEX1 gene (one from each parent) in order to develop the disorder. Mutations in the PEX1 gene lead to a deficiency or dysfunction of peroxisomes, resulting in the accumulation of toxic substances in the body.

NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations in the PEX1 gene. This type of testing allows for the simultaneous analysis of multiple genes, providing a comprehensive evaluation of genetic variations. NGS can detect both small and large genetic alterations, including single nucleotide variants, insertions, deletions, and structural rearrangements.

By performing an NGS genetic test for PEX1 gene mutations, healthcare professionals can diagnose peroxisome biogenesis disorder type 1B and provide appropriate management and treatment options for affected individuals.

Test Name	PEX1 Gene Peroxisome biogenesis disorder type 1B 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 PEX1 Gene Peroxisome biogenesis disorder type 1B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PEX1 Gene Peroxisome biogenesis disorder type 1B
Test Details	PEX1 gene is associated with a rare genetic disorder known as peroxisome biogenesis disorder type 1B (PBD1B). This disorder affects the peroxisomes, which are small organelles involved in various metabolic processes in the cell. PBD1B is an autosomal recessive disorder, meaning that an individual must inherit two mutated copies of the PEX1 gene (one from each parent) in order to develop the disorder. Mutations in the PEX1 gene lead to a deficiency or dysfunction of peroxisomes, resulting in the accumulation of toxic substances in the body. NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations in the PEX1 gene. This type of testing allows for the simultaneous analysis of multiple genes, providing a comprehensive evaluation of genetic variations. NGS can detect both small and large genetic alterations, including single nucleotide variants, insertions, deletions, and structural rearrangements. By performing an NGS genetic test for PEX1 gene mutations, healthcare professionals can diagnose peroxisome biogenesis disorder type 1B and provide appropriate management and treatment options for affected individuals.