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SMPD1 Gene Niemann-Pick Disease Type AB Genetic Test Cost

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

-21%

The SMPD1 gene Niemann-Pick disease Type AB genetic test is a specialized diagnostic procedure offered by DNA Labs UAE, aimed at identifying mutations in the SMPD1 gene, which are responsible for Niemann-Pick disease types A and B. Niemann-Pick disease is a rare, inherited lipid storage disorder that affects the body’s ability to metabolize fat within cells, leading to harmful accumulations that can impair health and organ function, particularly in the liver, spleen, and brain.

Type A Niemann-Pick disease is characterized by severe neurodegeneration in early childhood, while Type B presents with less severe symptoms, mainly affecting the spleen and liver, and does not typically involve the nervous system. Both conditions, however, stem from a deficiency in the enzyme acid sphingomyelinase, due to mutations in the SMPD1 gene.

The genetic test provided by DNA Labs UAE involves collecting a DNA sample, usually through a blood draw or cheek swab, to analyze the SMPD1 gene for specific mutations. This test is crucial for the accurate diagnosis of Niemann-Pick disease types A and B, enabling early intervention, management strategies, and genetic counseling for affected individuals and their families.

The cost of the SMPD1 gene Niemann-Pick disease Type AB genetic test at DNA Labs UAE is 4400 AED. This investment covers the full process of the genetic analysis, from sample collection to the provision of a detailed report, which includes interpretation of the results by qualified professionals. Early diagnosis through this test can be pivotal in managing the disease’s progression and improving the quality of life for those affected.

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SMPD1 Gene Niemann-Pick Disease Type AB Genetic Test

Welcome to DNA Labs UAE, a leading genetic laboratory offering a comprehensive range of genetic tests. In this blog post, we will provide detailed information about the SMPD1 Gene Niemann-Pick Disease Type AB Genetic Test.

Test Details

The SMPD1 gene is associated with Niemann-Pick disease type A and type B, which are rare genetic disorders characterized by the accumulation of lipids (fatty substances) in various organs of the body. These diseases are caused by mutations in the SMPD1 gene, which provides instructions for producing an enzyme called acid sphingomyelinase.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of a person’s genes. In the case of Niemann-Pick disease type A/B, NGS genetic testing can be used to identify mutations in the SMPD1 gene that may be responsible for causing the disease.

NGS genetic testing involves collecting a DNA sample, usually through a blood or saliva sample, and then sequencing the DNA to identify any variations or mutations in the SMPD1 gene. This information can help diagnose Niemann-Pick disease type A/B and provide valuable information for genetic counseling and treatment options.

It is important to note that NGS genetic testing for Niemann-Pick disease type A/B should be conducted under the guidance of a healthcare professional or genetic counselor, as the results and interpretation can be complex.

Test Name

SMPD1 Gene Niemann-Pick Disease Type AB Genetic Test

Components

  • 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

Metabolic Disorders

Doctor

General Physician

Test Department

Genetics

Pre Test Information

Clinical History of Patient who is going for SMPD1 Gene Niemann-Pick Disease Type A/B NGS Genetic DNA Test

A Genetic Counselling session to draw a pedigree chart of family members affected with Niemann-Pick disease type A/B

Thank you for choosing DNA Labs UAE for your genetic testing needs. If you have any further questions or would like to schedule an appointment, please contact our team.

Test Name SMPD1 Gene Niemann-Pick disease type AB Genetic Test
Components
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 Metabolic Disorders
Doctor General Physician
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for SMPD1 Gene Niemann-Pick disease type A/B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Niemann-Pick disease type A/B
Test Details

The SMPD1 gene is associated with Niemann-Pick disease type A and type B, which are rare genetic disorders characterized by the accumulation of lipids (fatty substances) in various organs of the body. These diseases are caused by mutations in the SMPD1 gene, which provides instructions for producing an enzyme called acid sphingomyelinase.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of a person’s genes. In the case of Niemann-Pick disease type A/B, NGS genetic testing can be used to identify mutations in the SMPD1 gene that may be responsible for causing the disease.

NGS genetic testing involves collecting a DNA sample, usually through a blood or saliva sample, and then sequencing the DNA to identify any variations or mutations in the SMPD1 gene. This information can help diagnose Niemann-Pick disease type A/B and provide valuable information for genetic counseling and treatment options.

It is important to note that NGS genetic testing for Niemann-Pick disease type A/B should be conducted under the guidance of a healthcare professional or genetic counselor, as the results and interpretation can be complex.

SKU: TEST-2576