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ATIC Gene AICA-Ribosiduria Due to ATIC Deficiency Genetic Test Cost

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

-21%

The “ATIC Gene AICA-Ribosiduria Due to ATIC Deficiency Genetic Test” is a specialized diagnostic procedure available at DNA Labs UAE, designed to identify mutations in the ATIC gene, which can lead to AICA-ribosiduria. This rare genetic disorder is characterized by an accumulation of AICA-riboside in bodily fluids and is caused by a deficiency in the ATIC enzyme, which plays a critical role in the purine biosynthesis pathway. Symptoms of the disorder may include developmental delay, physical disabilities, and neurological issues.

This test is crucial for individuals who exhibit symptoms suggestive of AICA-ribosiduria or have a family history of the disorder, as early detection can aid in managing symptoms and improving the quality of life. The testing process involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed for specific mutations in the ATIC gene that are known to cause the condition.

The cost of the ATIC Gene AICA-Ribosiduria Due to ATIC Deficiency Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to accurately identify the presence of the genetic mutation, providing essential information for diagnosis and potential treatment options. Given the specialized nature of this test and its importance in the diagnosis of a rare genetic disorder, the cost reflects the technical expertise and resources necessary to conduct the analysis and interpret the results.

Description

ATIC Gene AICA-ribosiduria due to ATIC deficiency Genetic Test

Are you concerned about AICA-ribosiduria due to ATIC deficiency? DNA Labs UAE offers a comprehensive genetic test to diagnose this rare genetic disorder.

Test Details

ATIC gene AICA-ribosiduria is a rare genetic disorder caused by a deficiency in the ATIC gene. The ATIC gene provides instructions for producing the enzyme AICAR transformylase/IMP cyclohydrolase, which is involved in the synthesis of purine nucleotides.

Individuals with AICA-ribosiduria typically have symptoms such as developmental delay, intellectual disability, seizures, and hearing loss. The condition is usually diagnosed based on clinical presentation and confirmed through genetic testing.

NGS Technology

Next-generation sequencing (NGS) is a genetic testing method that can be used to analyze multiple genes simultaneously. In the case of AICA-ribosiduria, NGS can be used to identify mutations or variations in the ATIC gene that may be responsible for the disorder. This type of testing can provide a comprehensive analysis of the patient’s genetic makeup and help with accurate diagnosis.

Sample Collection

NGS genetic testing for AICA-ribosiduria can be performed using a blood or saliva sample. The sample is analyzed in a laboratory, where DNA sequencing techniques are used to identify any mutations or variations in the ATIC gene.

Report Delivery

The results of the test are typically delivered within 3 to 4 weeks.

Test Cost

The cost of the ATIC Gene AICA-ribosiduria due to ATIC deficiency Genetic Test is AED 4400.0.

Referral and Test Department

This test can be referred by a General Physician and is conducted in the Genetics department of DNA Labs UAE.

Pre Test Information

Before undergoing the ATIC Gene AICA-ribosiduria due to ATIC deficiency NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected with AICA-ribosiduria due to ATIC deficiency.

Genetic Counseling

Genetic counseling is often recommended before and after testing to help individuals and families understand the implications of the results.

Don’t wait, get the ATIC Gene AICA-ribosiduria due to ATIC deficiency Genetic Test at DNA Labs UAE today and take control of your health.

Test Name	ATIC Gene AICA-ribosiduria due to ATIC deficiency 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 ATIC Gene AICA-ribosiduria due to ATIC deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AICA-ribosiduria due to ATIC deficiency
Test Details	ATIC gene AICA-ribosiduria is a rare genetic disorder caused by a deficiency in the ATIC gene. The ATIC gene provides instructions for producing the enzyme AICAR transformylase/IMP cyclohydrolase, which is involved in the synthesis of purine nucleotides. Individuals with AICA-ribosiduria typically have symptoms such as developmental delay, intellectual disability, seizures, and hearing loss. The condition is usually diagnosed based on clinical presentation and confirmed through genetic testing. Next-generation sequencing (NGS) is a genetic testing method that can be used to analyze multiple genes simultaneously. In the case of AICA-ribosiduria, NGS can be used to identify mutations or variations in the ATIC gene that may be responsible for the disorder. This type of testing can provide a comprehensive analysis of the patient’s genetic makeup and help with accurate diagnosis. NGS genetic testing for AICA-ribosiduria can be performed using a blood or saliva sample. The sample is analyzed in a laboratory, where DNA sequencing techniques are used to identify any mutations or variations in the ATIC gene. The results of the test can help guide treatment decisions and provide information about the risk of the condition in other family members. It is important to note that NGS genetic testing is typically performed by specialized laboratories and requires a healthcare professional’s order. Genetic counseling is often recommended before and after testing to help individuals and families understand the implications of the results.

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