TWNK Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 3 Autosomal Dominant Genetic Test sale cost 4400 AED
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TWNK Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 3 Autosomal Dominant Genetic Test Cost

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

-21%

The TWNK Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 3 Autosomal Dominant Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE. This test is designed to identify mutations in the TWNK gene, which have been associated with Progressive External Ophthalmoplegia (PEO) Type 3, a condition characterized by weakness of the eye muscles and, in some cases, other systemic symptoms due to mitochondrial deletions. PEO is an autosomal dominant disorder, meaning that a mutation in just one of the two copies of the gene can lead to the condition.

PEO can lead to symptoms such as drooping eyelids, difficulty moving the eyes, and in more severe cases, can affect other muscles in the body. The presence of mitochondrial deletions adds complexity to the condition, potentially leading to a broader spectrum of symptoms, including but not limited to muscle weakness, heart issues, and neurological deficits.

The genetic test offered by DNA Labs UAE for this condition costs 4400 AED. It involves analyzing the patient’s DNA to look for specific mutations in the TWNK gene that are known to cause the disorder. This test is crucial for accurate diagnosis and can also provide valuable information for family planning and understanding the risk of passing the condition to offspring. Early diagnosis through genetic testing can also assist in the management of symptoms and in improving the quality of life for those affected by PEO.

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TWNK Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 3 Autosomal Dominant Genetic Test

Test Name: TWNK Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 3 Autosomal Dominant Genetic Test

Components: Blood or Extracted DNA or One drop Blood on FTA Card

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 TWNK Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 3, Autosomal Dominant NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TWNK Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 3, Autosomal Dominant.

Test Details: Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 3, Autosomal Dominant (PEO3) is a genetic disorder characterized by progressive weakness and paralysis of the muscles that control eye movement (ophthalmoplegia). It is caused by mutations in the TWNK gene, which provides instructions for making a protein called Twinkle. This protein is essential for the replication and maintenance of mitochondrial DNA (mtDNA). NGS (Next-Generation Sequencing) Genetic Test is a type of genetic testing that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. It allows for the rapid and cost-effective sequencing of large amounts of DNA, providing comprehensive genetic information. In the context of PEO3, an NGS Genetic Test would involve sequencing the TWNK gene to identify any mutations or deletions that may be present. This test can help confirm a diagnosis of PEO3 and provide information about the specific genetic variant causing the condition. Genetic testing for PEO3 can be beneficial for individuals with symptoms suggestive of the disorder, as well as their family members who may be at risk of inheriting the condition. It can aid in early diagnosis, genetic counseling, and potentially guide treatment decisions. It is important to consult with a healthcare professional or genetic counselor to discuss the appropriateness, benefits, and limitations of genetic testing for PEO3. They can provide guidance on the testing process, interpretation of results, and implications for the individual and their family.

Test Name TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3 autosomal dominant 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 TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant
Test Details

Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant (PEO3) is a genetic disorder characterized by progressive weakness and paralysis of the muscles that control eye movement (ophthalmoplegia). It is caused by mutations in the TWNK gene, which provides instructions for making a protein called Twinkle. This protein is essential for the replication and maintenance of mitochondrial DNA (mtDNA).

NGS (Next-Generation Sequencing) Genetic Test is a type of genetic testing that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. It allows for the rapid and cost-effective sequencing of large amounts of DNA, providing comprehensive genetic information.

In the context of PEO3, an NGS Genetic Test would involve sequencing the TWNK gene to identify any mutations or deletions that may be present. This test can help confirm a diagnosis of PEO3 and provide information about the specific genetic variant causing the condition.

Genetic testing for PEO3 can be beneficial for individuals with symptoms suggestive of the disorder, as well as their family members who may be at risk of inheriting the condition. It can aid in early diagnosis, genetic counseling, and potentially guide treatment decisions.

It is important to consult with a healthcare professional or genetic counselor to discuss the appropriateness, benefits, and limitations of genetic testing for PEO3. They can provide guidance on the testing process, interpretation of results, and implications for the individual and their family.

SKU: TEST-1943 Category:

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