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SLC52A3 Gene Fazio-Londe Disease Genetic Test

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

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The SLC52A3 gene plays a critical role in the human body by encoding for a transporter protein essential for the uptake of riboflavin (vitamin B2), which is crucial for mitochondrial function and overall cellular energy metabolism. Mutations in the SLC52A3 gene can lead to Fazio-Londe disease, a rare and severe neurological disorder that primarily affects the motor neurons, leading to muscle weakness and respiratory failure, often in childhood or early adolescence.

To diagnose this condition, a genetic test focusing on the SLC52A3 gene can be conducted. This test involves analyzing the patient’s DNA to identify mutations in the SLC52A3 gene that are known to cause Fazio-Londe disease. It is a vital tool for confirming the diagnosis, which can then guide treatment and management strategies for affected individuals.

At DNA Labs UAE, the SLC52A3 Gene Fazio-Londe Disease Genetic Test is available for individuals who may be at risk of this condition, either due to symptoms or a family history of the disease. The test is priced at 4400 AED and involves a simple process of collecting a DNA sample, usually through a blood draw or cheek swab. The sample is then analyzed in the laboratory to detect any mutations in the SLC52A3 gene. Results from this test can provide crucial information for patients and their families regarding the diagnosis, prognosis, and potential treatment options for Fazio-Londe disease.

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SLC52A3 Gene Fazio-Londe disease Genetic Test

Introduction

The SLC52A3 gene is associated with Fazio-Londe disease, a rare genetic disorder characterized by progressive weakness and wasting of the muscles involved in speaking, swallowing, and breathing. This disease is caused by mutations in the SLC52A3 gene, which is involved in the transport of riboflavin (vitamin B2) into cells.

Test Details

The SLC52A3 Gene Fazio-Londe disease Genetic Test is a comprehensive genetic test that analyzes the SLC52A3 gene using NGS (Next-Generation Sequencing) technology. This test helps identify any mutations or genetic variations in the SLC52A3 gene that may be associated with Fazio-Londe disease.

Components and Price

The cost of the SLC52A3 Gene Fazio-Londe disease Genetic Test is 4400.0 AED. The test can be performed on either blood or extracted DNA, or by using one drop of blood on an FTA card.

Report Delivery

The report for the SLC52A3 Gene Fazio-Londe disease Genetic Test is typically delivered within 3 to 4 weeks.

Test Type and Department

The SLC52A3 Gene Fazio-Londe disease Genetic Test falls under the category of Ear Nose Throat Disorders. The test is conducted by the Genetics department of DNA Labs UAE.

Doctor and Pre Test Information

The SLC52A3 Gene Fazio-Londe disease Genetic Test is recommended to be performed by an ENT Doctor. Before the test, it is important to provide the clinical history of the patient who is going for the PTPN23 Gene Ciliogenesis related disorder NGS Genetic DNA Test. Additionally, a genetic counseling session is advised to draw a pedigree chart of family members affected with the PTPN23 Gene Ciliogenesis related disorder NGS Genetic DNA Test gene PTPN35.

Benefits of the Test

The SLC52A3 Gene Fazio-Londe disease Genetic Test can help confirm a diagnosis of Fazio-Londe disease and provide information about the specific genetic mutation involved. It can also be useful for genetic counseling and family planning purposes.

Test Name SLC52A3 Gene Fazio-Londe 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 Ear Nose Throat Disorders
Doctor ENT Doctor
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for PTPN23 Gene Ciliogenesis related disorder NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PTPN23 Gene Ciliogenesis related disorder NGS Genetic DNA Test gene PTPN35
Test Details

The SLC52A3 gene is associated with Fazio-Londe disease, a rare genetic disorder characterized by progressive weakness and wasting of the muscles involved in speaking, swallowing, and breathing. This disease is caused by mutations in the SLC52A3 gene, which is involved in the transport of riboflavin (vitamin B2) into cells.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify genetic variations or mutations that may be associated with a particular disorder. In the case of Fazio-Londe disease, an NGS genetic test would analyze the SLC52A3 gene to identify any mutations that may be present.

This type of genetic testing can help confirm a diagnosis of Fazio-Londe disease and provide information about the specific genetic mutation involved. It can also be useful for genetic counseling and family planning purposes.

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