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SPTLC1 Gene HSAN1 Genetic Test

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

-21%

The SPTLC1 gene is associated with Hereditary Sensory and Autonomic Neuropathy Type I (HSAN1), a rare genetic disorder characterized by loss of sensation and muscle weakness. The SPTLC1 gene plays a crucial role in the biosynthesis of sphingolipids, which are essential components of cell membranes and involved in various cellular functions. Mutations in the SPTLC1 gene lead to the accumulation of toxic substances in nerve cells, causing the symptoms associated with HSAN1.

To diagnose HSAN1, a genetic test targeting the SPTLC1 gene can be conducted. This test is designed to identify mutations in the SPTLC1 gene that are responsible for the disorder. Early diagnosis through genetic testing can facilitate better management of the condition and help in understanding the risk of passing the disorder to future generations.

In the United Arab Emirates, the SPTLC1 gene HSAN1 genetic test is available at DNA Labs UAE. The cost of the test is 4400 AED. DNA Labs UAE is equipped with state-of-the-art technology to provide accurate and reliable genetic testing services. By opting for this test at DNA Labs UAE, individuals suspected of having HSAN1 or those with a family history of the disorder can gain valuable insights into their genetic makeup, enabling informed decisions regarding their health and the health of their family members.

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SPTLC1 Gene HSAN1 Genetic Test

Test Name: SPTLC1 Gene HSAN1 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 SPTLC1 Gene HSAN1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SPTLC1 Gene HSAN1.

Test Details:

The SPTLC1 gene is associated with hereditary sensory and autonomic neuropathy type 1 (HSAN1), a rare genetic disorder characterized by progressive degeneration of sensory and autonomic nerves. Mutations in the SPTLC1 gene can lead to the production of a faulty enzyme called serine palmitoyltransferase, which is involved in the synthesis of sphingolipids.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify potential mutations or variations associated with a particular condition or disease. In the case of HSAN1, NGS genetic testing can detect mutations in the SPTLC1 gene. This involves sequencing the DNA of an individual and comparing it to a reference genome to identify any genetic variations.

Genetic testing for HSAN1 can be useful for individuals with symptoms of the disorder or a family history of HSAN1. It confirms the diagnosis, provides information about the inheritance pattern, and assists in genetic counseling and family planning.

It is important to consult with a healthcare professional or genetic counselor to discuss the benefits, limitations, and potential risks of genetic testing before undergoing any testing procedure.

Test Name SPTLC1 Gene HSAN1 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 SPTLC1 Gene HSAN1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SPTLC1 Gene HSAN1
Test Details

The SPTLC1 gene is associated with hereditary sensory and autonomic neuropathy type 1 (HSAN1), which is a rare genetic disorder characterized by progressive degeneration of sensory and autonomic nerves. Mutations in the SPTLC1 gene can lead to the production of a faulty enzyme called serine palmitoyltransferase, which is involved in the synthesis of sphingolipids.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify potential mutations or variations that may be associated with a particular condition or disease. In the case of HSAN1, NGS genetic testing can be used to detect mutations in the SPTLC1 gene.

NGS testing involves sequencing the DNA of an individual and comparing it to a reference genome to identify any genetic variations. This can help in diagnosing HSAN1 and determining the specific mutation in the SPTLC1 gene that may be causing the condition.

Genetic testing for HSAN1 can be useful for individuals who have symptoms of the disorder or have a family history of HSAN1. It can help in confirming the diagnosis, providing information about the inheritance pattern, and assisting in genetic counseling and family planning.

It is important to consult with a healthcare professional or a genetic counselor to discuss the benefits, limitations, and potential risks of genetic testing before undergoing any testing procedure.