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PNPT1 Gene Combined oxidative phosphorylation deficiency type 13 Genetic Test Cost

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

-21%

The PNPT1 gene is linked to Combined Oxidative Phosphorylation Deficiency Type 13 (COXPD13), a rare genetic condition that affects mitochondrial function, leading to a wide range of symptoms including developmental delay, muscle weakness, and hearing loss. The condition is inherited in an autosomal recessive pattern, meaning that two copies of the mutated gene, one from each parent, are necessary for a child to be affected.

To diagnose this condition, a genetic test targeting the PNPT1 gene can be conducted. This test is crucial for confirming the diagnosis, understanding the disease’s progression, and guiding treatment options. It involves analyzing the patient’s DNA to identify mutations in the PNPT1 gene that are responsible for COXPD13.

In the UAE, this specific genetic test is available at DNA Labs UAE, a leading facility specializing in a wide range of genetic analyses. The cost of the PNPT1 gene test is set at 4400 AED. The test process includes collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in the laboratory for the presence of specific genetic mutations in the PNPT1 gene. Results from this test can provide essential information for patients and their families regarding the management of the condition and potential genetic counseling needs.

Description

PNPT1 Gene Combined Oxidative Phosphorylation Deficiency Type 13 Genetic Test

Components: PNPT1 Gene Combined Oxidative Phosphorylation Deficiency Type 13 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 PNPT1 Gene Combined Oxidative Phosphorylation Deficiency Type 13 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Combined Oxidative Phosphorylation Deficiency Type 13.

Test Details: The PNPT1 gene is responsible for encoding the enzyme polynucleotide phosphorylase, which plays a crucial role in mitochondrial RNA metabolism. Combined Oxidative Phosphorylation Deficiency Type 13 (COXPD13) is a rare genetic disorder caused by mutations in the PNPT1 gene. This condition affects the function of mitochondria, leading to impaired energy production in cells.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify genetic mutations or variations. In the case of COXPD13, NGS can be used to identify mutations in the PNPT1 gene, which can help in diagnosing the condition. The NGS genetic test for COXPD13 involves obtaining a DNA sample, usually through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology to identify any mutations or variations in the PNPT1 gene.

The results of the test can help confirm a diagnosis of COXPD13 and provide information about the specific mutation(s) present in the gene. It is important to note that genetic testing for COXPD13 should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate genetic counseling and guidance.

Test Name	PNPT1 Gene Combined oxidative phosphorylation deficiency type 13 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 PNPT1 Gene Combined oxidative phosphorylation deficiency type 13 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 13
Test Details	The PNPT1 gene is responsible for encoding the enzyme polynucleotide phosphorylase, which plays a crucial role in mitochondrial RNA metabolism. Combined oxidative phosphorylation deficiency type 13 (COXPD13) is a rare genetic disorder caused by mutations in the PNPT1 gene. This condition affects the function of mitochondria, leading to impaired energy production in cells. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify genetic mutations or variations. In the case of COXPD13, NGS can be used to identify mutations in the PNPT1 gene, which can help in diagnosing the condition. The NGS genetic test for COXPD13 involves obtaining a DNA sample, usually through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology to identify any mutations or variations in the PNPT1 gene. The results of the test can help confirm a diagnosis of COXPD13 and provide information about the specific mutation(s) present in the gene. It is important to note that genetic testing for COXPD13 should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate genetic counseling and guidance.