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SLC17A5 Gene Sialuria Finnish Type Genetic Test Cost

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

-21%

The SLC17A5 gene Sialuria Finnish Type genetic test is a specialized diagnostic tool designed to identify mutations in the SLC17A5 gene, which are responsible for causing Sialuria Finnish Type, a rare genetic disorder. This condition is characterized by an excess of free sialic acid in the body, leading to various symptoms such as developmental delay, coarse facial features, and organomegaly. The test involves analyzing the patient’s DNA to detect mutations in the SLC17A5 gene, providing crucial information for diagnosis, management, and genetic counseling of affected individuals and their families.

Performed at DNA Labs UAE, a leading facility in genetic testing, the cost of the SLC17A5 gene Sialuria Finnish Type genetic test is 4400 AED. DNA Labs UAE is equipped with state-of-the-art technology and staffed by experienced professionals, ensuring accurate and reliable test results. This test is an important resource for families with a history of Sialuria Finnish Type, offering them the opportunity for early diagnosis and intervention.

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SLC17A5 Gene Sialuria Genetic Test

Introduction

SLC17A5 gene sialuria is a rare genetic disorder characterized by the accumulation of sialic acid in the urine. It is caused by mutations in the SLC17A5 gene, which encodes a protein called sialin that is responsible for transporting sialic acid out of cells.

Test Details

To diagnose SLC17A5 gene sialuria, a next-generation sequencing (NGS) genetic test can be performed. This type of test allows for the simultaneous analysis of multiple genes, including the SLC17A5 gene, to identify any mutations or variations that may be present.

Test Name:

SLC17A5 Gene Sialuria finish type 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:

Neurological Disorders

Doctor:

Neurologist

Test Department:

Genetics

Pre Test Information:

Clinical History of Patient who is going for SLC17A5 Gene Sialuria, finish type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC17A5 Gene Sialuria, finish type

Test Procedure

  1. Sample collection: A small sample of blood or saliva is collected from the patient. In some cases, a skin biopsy may be required to obtain a sample of skin cells.
  2. DNA extraction: The genetic material (DNA) is extracted from the collected sample. This DNA contains the patient’s genetic information, including the SLC17A5 gene.
  3. Library preparation: The extracted DNA is prepared for sequencing by creating a DNA library. This involves fragmenting the DNA and attaching specific DNA sequences, called adapters, to the fragments. These adapters allow for the amplification and sequencing of the DNA.
  4. Sequencing: The prepared DNA library is loaded onto a next-generation sequencing platform, such as Illumina or Ion Torrent. The platform then performs the sequencing process, which generates millions of short DNA sequences.
  5. Data analysis: The generated DNA sequences are analyzed using bioinformatics tools and compared to a reference genome. This analysis identifies any variations or mutations in the SLC17A5 gene that may be present in the patient’s DNA.
  6. Interpretation and reporting: The results of the NGS genetic test are interpreted by a geneticist or genetic counselor. Any identified mutations or variations in the SLC17A5 gene are reported to the healthcare provider, who can then discuss the results with the patient and provide appropriate recommendations for further management or treatment.

Conclusion

A NGS genetic test for SLC17A5 gene sialuria involves the analysis of the SLC17A5 gene using next-generation sequencing technology. This test helps diagnose the condition by identifying any mutations or variations in the gene that may be responsible for the disorder.

Test Name SLC17A5 Gene Sialuria finish type 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 SLC17A5 Gene Sialuria, finish type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC17A5 Gene Sialuria, finish type
Test Details

SLC17A5 gene sialuria is a rare genetic disorder characterized by the accumulation of sialic acid in the urine. It is caused by mutations in the SLC17A5 gene, which encodes a protein called sialin that is responsible for transporting sialic acid out of cells.

To diagnose SLC17A5 gene sialuria, a next-generation sequencing (NGS) genetic test can be performed. This type of test allows for the simultaneous analysis of multiple genes, including the SLC17A5 gene, to identify any mutations or variations that may be present.

The NGS genetic test for SLC17A5 gene sialuria typically involves the following steps:

1. Sample collection: A small sample of blood or saliva is collected from the patient. In some cases, a skin biopsy may be required to obtain a sample of skin cells.

2. DNA extraction: The genetic material (DNA) is extracted from the collected sample. This DNA contains the patient’s genetic information, including the SLC17A5 gene.

3. Library preparation: The extracted DNA is prepared for sequencing by creating a DNA library. This involves fragmenting the DNA and attaching specific DNA sequences, called adapters, to the fragments. These adapters allow for the amplification and sequencing of the DNA.

4. Sequencing: The prepared DNA library is loaded onto a next-generation sequencing platform, such as Illumina or Ion Torrent. The platform then performs the sequencing process, which generates millions of short DNA sequences.

5. Data analysis: The generated DNA sequences are analyzed using bioinformatics tools and compared to a reference genome. This analysis identifies any variations or mutations in the SLC17A5 gene that may be present in the patient’s DNA.

6. Interpretation and reporting: The results of the NGS genetic test are interpreted by a geneticist or genetic counselor. Any identified mutations or variations in the SLC17A5 gene are reported to the healthcare provider, who can then discuss the results with the patient and provide appropriate recommendations for further management or treatment.

In conclusion, a NGS genetic test for SLC17A5 gene sialuria involves the analysis of the SLC17A5 gene using next-generation sequencing technology. This test helps diagnose the condition by identifying any mutations or variations in the gene that may be responsible for the disorder.

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