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AP4B1 Gene SPG47 Genetic Test

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

-21%

The AP4B1 gene SPG47 genetic test is a specialized diagnostic procedure aimed at detecting mutations in the AP4B1 gene, which are linked to Spastic Paraplegia 47 (SPG47). SPG47 is a rare form of hereditary spastic paraplegia, characterized by developmental delays, intellectual disability, and progressive spasticity. This condition is part of a group of genetic disorders known as AP-4-associated hereditary spastic paraplegia, which affects the nervous system’s development and function.

Conducted at DNA Labs UAE, this genetic test is crucial for individuals suspected of having SPG47, offering them a definitive diagnosis. Understanding the genetic basis of the condition can help in managing symptoms, planning treatments, and providing genetic counseling for affected families. The test involves analyzing the patient’s DNA, extracted from a blood sample, to identify mutations in the AP4B1 gene that are responsible for the disorder.

The cost of the AP4B1 gene SPG47 genetic test at DNA Labs UAE is 4400 AED. This investment covers the expenses related to the sophisticated techniques and expert analysis required to accurately identify the genetic variations associated with the condition. For families and individuals facing the challenges of SPG47, this test represents a critical step towards a better understanding of the condition and the potential for more personalized care and management strategies.

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AP4B1 Gene SPG47 Genetic Test

Cost: 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 AP4B1 Gene SPG47 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AP4B1 Gene SPG47.

Test Details

The AP4B1 gene is associated with a rare genetic disorder called spastic paraplegia type 47 (SPG47). This disorder is characterized by progressive muscle stiffness and weakness in the lower limbs, which can lead to difficulty walking and eventually wheelchair dependence.

An NGS (Next-Generation Sequencing) genetic test can be used to analyze the AP4B1 gene and identify any variations or mutations that may be present. This test involves sequencing the DNA of an individual to determine the specific genetic code of the AP4B1 gene. Any mutations or variations in this gene can then be identified and analyzed to determine if they are likely to be causing the symptoms of SPG47.

NGS genetic tests are highly accurate and can provide detailed information about an individual’s genetic makeup. They can help in confirming a diagnosis of SPG47 and can also be used for carrier testing in individuals with a family history of the disorder. Additionally, NGS testing can be used for prenatal diagnosis in families at risk of having a child with SPG47.

It is important to note that genetic testing for SPG47 should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and support throughout the testing process.

Test Name AP4B1 Gene SPG47 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 AP4B1 Gene SPG47 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AP4B1 Gene SPG47
Test Details

The AP4B1 gene is associated with a rare genetic disorder called spastic paraplegia type 47 (SPG47). This disorder is characterized by progressive muscle stiffness and weakness in the lower limbs, which can lead to difficulty walking and eventually wheelchair dependence.

An NGS (Next-Generation Sequencing) genetic test can be used to analyze the AP4B1 gene and identify any variations or mutations that may be present. This test involves sequencing the DNA of an individual to determine the specific genetic code of the AP4B1 gene. Any mutations or variations in this gene can then be identified and analyzed to determine if they are likely to be causing the symptoms of SPG47.

NGS genetic tests are highly accurate and can provide detailed information about an individual’s genetic makeup. They can help in confirming a diagnosis of SPG47 and can also be used for carrier testing in individuals with a family history of the disorder. Additionally, NGS testing can be used for prenatal diagnosis in families at risk of having a child with SPG47.

It is important to note that genetic testing for SPG47 should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and support throughout the testing process.

SKU: TEST-2011 Category:

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