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KIF1A Gene HSN2C Genetic Test

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

-21%

The KIF1A Gene HSN2C Genetic Test is a specialized diagnostic examination offered by DNA Labs UAE, designed to identify mutations in the KIF1A gene that are associated with Hereditary Sensory and Autonomic Neuropathy Type 2C (HSN2C). This condition is a rare genetic disorder that affects the peripheral nervous system, leading to sensory loss, muscle weakness, and autonomic dysfunction. The test is critical for individuals who exhibit symptoms suggestive of HSN2C or have a family history of the condition, as early detection can significantly impact management and treatment strategies.

Performed in the state-of-the-art facilities of DNA Labs UAE, the test involves analyzing the patient’s DNA sample to search for specific genetic alterations in the KIF1A gene that are known to cause HSN2C. The process is highly accurate and provides essential information for genetic counseling, guiding treatment decisions, and assessing the risk of passing the condition to future generations.

The cost of the KIF1A Gene HSN2C Genetic Test at DNA Labs UAE is 4400 AED. This price reflects the comprehensive nature of the test, including the sophisticated technology and expertise required to accurately identify mutations in the KIF1A gene. For patients and families dealing with the possibility of HSN2C, this test represents a critical step towards understanding their genetic health and making informed decisions about their care.

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KIF1A Gene HSN2C Genetic Test – DNA Labs UAE

The KIF1A Gene HSN2C Genetic Test offered by DNA Labs UAE is a comprehensive test used to diagnose the rare neurological disorder called hereditary spastic paraplegia type 30 (HSP30), also known as HSN2C. This test is specifically designed for individuals experiencing symptoms such as progressive weakness and stiffness in the lower limbs, leading to difficulty in walking.

Test Details

The KIF1A gene is responsible for producing a protein called kinesin family member 1A, which plays a crucial role in the transport of cellular components along microtubules. Mutations in the KIF1A gene have been associated with HSP30/HSN2C. This disorder is inherited in an autosomal dominant manner, meaning that a mutation in one copy of the KIF1A gene is sufficient to cause the condition.

The KIF1A Gene HSN2C Genetic Test utilizes NGS (Next-Generation Sequencing) technology to analyze multiple genes simultaneously. This method helps identify mutations or variations that may be associated with HSN2C. By obtaining a DNA sample, typically through a blood or saliva sample, the laboratory can sequence the DNA to identify any variations or mutations in the KIF1A gene.

Test Components and Cost

The KIF1A Gene HSN2C Genetic Test is priced at 4400.0 AED. The sample condition required for this test can be either blood, extracted DNA, or one drop of blood on an FTA card. The report delivery time is estimated to be 3 to 4 weeks.

Referral and Pre-Test Information

Individuals interested in this test should consult with a neurologist, as this test falls under the domain of neurological disorders. A clinical history of the patient should be provided prior to the test. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected by HSN2C.

Benefits and Applications

The KIF1A Gene HSN2C Genetic Test can provide valuable information for individuals with symptoms suggestive of HSN2C, as well as their family members who may be at risk of inheriting the condition. It can aid in confirming a diagnosis of HSN2C and provide specific details about the mutation present in an individual. This information is crucial for genetic counseling and family planning purposes.

It is important to note that NGS genetic testing is a complex and specialized procedure that requires expertise in genetic analysis and interpretation. Therefore, it should be performed by a qualified laboratory, such as DNA Labs UAE, and the results should be interpreted by a healthcare professional with expertise in genetics.

Test Name KIF1A Gene HSN2C 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 KIF1A Gene HSN2C NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with KIF1A Gene HSN2C
Test Details

The KIF1A gene is responsible for producing a protein called kinesin family member 1A, which is involved in the transport of cellular components along microtubules. Mutations in the KIF1A gene have been associated with a rare neurological disorder called hereditary spastic paraplegia type 30 (HSP30), also known as HSN2C.

HSN2C is characterized by progressive weakness and stiffness in the lower limbs, leading to difficulty in walking. It is inherited in an autosomal dominant manner, which means that a mutation in one copy of the KIF1A gene is sufficient to cause the condition.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify mutations or variations that may be associated with a particular condition. In the case of HSN2C, NGS genetic testing can be used to identify mutations in the KIF1A gene that may be causing the disorder.

This type of genetic testing involves obtaining a DNA sample, typically through a blood or saliva sample, and sequencing the DNA to identify any variations or mutations in the KIF1A gene. The results of the test can help confirm a diagnosis of HSN2C and provide information about the specific mutation present in an individual.

NGS genetic testing can be useful for individuals with symptoms suggestive of HSN2C, as well as their family members who may be at risk of inheriting the condition. It can also be helpful for genetic counseling and family planning purposes.

It’s important to note that NGS genetic testing is a complex and specialized procedure that requires expertise in genetic analysis and interpretation. It should be performed by a qualified laboratory and the results should be interpreted by a healthcare professional with expertise in genetics.