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SCN4A Gene Paramyotonia Congenita of von Eulenburg Genetic Test

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

-21%

The SCN4A gene paramyotonia congenita of von Eulenburg genetic test is a specialized diagnostic examination aimed at identifying mutations in the SCN4A gene, which are responsible for the rare neuromuscular disorder known as paramyotonia congenita of von Eulenburg. This condition is characterized by episodes of muscle stiffness triggered by cold temperatures or prolonged muscle use, and it is inherited in an autosomal dominant pattern. The test is crucial for confirming the diagnosis, enabling appropriate management and genetic counseling for affected individuals and their families.

Conducted at DNA Labs UAE, this genetic test involves analyzing the patient’s DNA to detect specific mutations in the SCN4A gene that are linked to the disorder. The process requires a sample of the patient’s blood or saliva, from which DNA is extracted and examined for the presence of these mutations.

The cost of the SCN4A gene paramyotonia congenita of von Eulenburg genetic test at DNA Labs UAE is 4400 AED. This price reflects the specialized nature of the test, which includes the costs of laboratory procedures, analysis by genetic experts, and the provision of a comprehensive report detailing the findings. For patients and families affected by paramyotonia congenita of von Eulenburg, this test is a valuable tool for understanding their condition and making informed decisions about their health care and lifestyle.

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Genetic Lab Blog: SCN4A Gene Paramyotonia Congenita of von Eulenburg Genetic Test

Genetic testing plays a crucial role in the diagnosis and management of various genetic disorders. One such disorder is Paramyotonia congenita of von Eulenburg (PC), a rare genetic disorder that affects muscle function. This blog will provide detailed information about the SCN4A Gene Paramyotonia congenita of von Eulenburg Genetic Test offered by DNA Labs UAE.

Test Details

Paramyotonia congenita of von Eulenburg (PC) is caused by mutations in the SCN4A gene, which is responsible for encoding a sodium channel protein involved in muscle contraction and relaxation. To identify these mutations, the SCN4A Gene Paramyotonia congenita of von Eulenburg Genetic Test uses Next-Generation Sequencing (NGS) technology. This advanced sequencing technique allows for the simultaneous analysis of multiple genes.

Test Components and Price

The cost of the SCN4A Gene Paramyotonia congenita of von Eulenburg Genetic Test is AED 4400.0. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card as the sample condition.

Report Delivery and Method

The report for the SCN4A Gene Paramyotonia congenita of von Eulenburg Genetic Test is typically delivered within 3 to 4 weeks. The method used for this test is NGS technology.

Test Type and Doctor

The SCN4A Gene Paramyotonia congenita of von Eulenburg Genetic Test falls under the category of Neurological Disorders. It is recommended to consult with a Neurologist for this test.

Test Department and Pre Test Information

The test is conducted in the Genetics department. Before undergoing the SCN4A Gene Paramyotonia congenita of von Eulenburg NGS Genetic DNA Test, it is essential to provide the clinical history of the patient. Additionally, a Genetic Counselling session is recommended to draw a pedigree chart of family members affected by SCN4A Gene Paramyotonia congenita of von Eulenburg.

Significance of the Test

The SCN4A Gene Paramyotonia congenita of von Eulenburg Genetic Test is crucial for diagnosing PC by confirming the presence of SCN4A gene mutations. It is also used for carrier testing in individuals with a family history of PC and for prenatal testing in families at risk of having a child with PC. However, it is important to note that genetic testing for PC should always be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate genetic counseling and support.

By offering the SCN4A Gene Paramyotonia congenita of von Eulenburg Genetic Test, DNA Labs UAE aims to provide accurate and reliable genetic testing services for the diagnosis and management of PC. This test can significantly contribute to improving patient care and helping individuals make informed decisions regarding their health.

Test Name SCN4A Gene Paramyotonia congenita of von Eulenburg 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 SCN4A Gene Paramyotonia congenita of von Eulenburg NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SCN4A Gene Paramyotonia congenita of von Eulenburg
Test Details

Paramyotonia congenita of von Eulenburg (PC) is a rare genetic disorder that affects muscle function. It is caused by mutations in the SCN4A gene, which encodes for a sodium channel protein involved in muscle contraction and relaxation.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of PC, NGS can be used to identify mutations in the SCN4A gene that are associated with the condition.

The NGS genetic test for SCN4A gene mutations in PC involves obtaining a DNA sample, usually through a blood sample or saliva sample. The DNA is then sequenced using NGS technology, which allows for the identification of any mutations or variations in the SCN4A gene.

This genetic test can help diagnose PC by confirming the presence of SCN4A gene mutations. It can also be used for carrier testing in individuals with a family history of PC, as well as for prenatal testing in families at risk of having a child with PC.

It’s important to note that genetic testing for PC should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate genetic counseling and support.

SKU: TEST-1877 Category:

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