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HSPG2 Gene Schwartz-Jampel Syndrome Type 1 Genetic Test Cost

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

-21%

The HSPG2 Gene Schwartz-Jampel Syndrome Type 1 Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify mutations in the HSPG2 gene, which are associated with Schwartz-Jampel Syndrome Type 1 (SJS1). Schwartz-Jampel Syndrome is a rare genetic disorder characterized by muscle stiffness and abnormalities in bone development, leading to a distinctive facial appearance, among other symptoms. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

This genetic test involves analyzing the patient’s DNA, extracted from a blood sample, to detect mutations in the HSPG2 gene that are indicative of SJS1. The identification of specific gene mutations can confirm a diagnosis, allowing for tailored management and treatment plans for the affected individuals. Moreover, the test can provide essential information for family planning and genetic counseling for families with a history of the syndrome.

The test is priced at 4400 AED and is conducted in the state-of-the-art facilities of DNA Labs UAE, ensuring high accuracy and reliability of the results. By opting for this test, individuals suspected of having Schwartz-Jampel Syndrome Type 1, or families with a known history of the condition, can gain valuable insights into their genetic status, aiding in the early detection and management of the syndrome.

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Genetic Lab Blog: HSPG2 Gene Schwartz-Jampel syndrome type 1 Genetic Test

Welcome to DNA Labs UAE’s blog on the HSPG2 Gene Schwartz-Jampel syndrome type 1 Genetic Test. In this blog post, we will provide detailed information about the test, including its components, cost, symptoms, diagnosis, and more.

Test Details

The HSPG2 gene is associated with Schwartz-Jampel syndrome type 1 (SJS1), a rare genetic disorder characterized by muscle stiffness, skeletal abnormalities, and other features. NGS (Next-Generation Sequencing) genetic testing refers to a high-throughput DNA sequencing method that allows for the simultaneous analysis of multiple genes.

In the context of SJS1, NGS genetic testing can be used to identify any mutations or variations in the HSPG2 gene that may be responsible for the syndrome. NGS genetic testing is a powerful tool that can provide comprehensive and detailed information about an individual’s genetic makeup. It can help in the diagnosis of genetic disorders, provide insights into disease prognosis, guide treatment decisions, and assist in genetic counseling for affected individuals and their families.

Test Name: HSPG2 Gene Schwartz-Jampel syndrome type 1 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: Neurological Disorders
  • Doctor: Neurologist
  • Test Department: Genetics

Pre Test Information

A Genetic Counselling session is recommended before the HSPG2 Gene Schwartz-Jampel syndrome type 1 NGS Genetic DNA Test. During this session, a pedigree chart of family members affected with HSPG2 Gene Schwartz-Jampel syndrome type 1 will be drawn to gather clinical history of the patient.

Diagnosis and Procedure

If a healthcare provider suspects Schwartz-Jampel syndrome type 1 in a patient, they may recommend NGS genetic testing for the HSPG2 gene to confirm the diagnosis. This test typically involves obtaining a blood or saliva sample from the patient, isolating the DNA, and subjecting it to NGS analysis to identify any mutations or variations in the HSPG2 gene.

It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals with expertise in genetics. Genetic counseling is also recommended before and after testing to help individuals and families understand the implications of the test results and make informed decisions about their healthcare.

Thank you for reading our blog post on the HSPG2 Gene Schwartz-Jampel syndrome type 1 Genetic Test. If you have any further questions or would like to schedule a test, please contact DNA Labs UAE.

Test Name HSPG2 Gene Schwartz-Jampel syndrome type 1 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 HSPG2 Gene Schwartz-Jampel syndrome type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with HSPG2 Gene Schwartz-Jampel syndrome type 1
Test Details

The HSPG2 gene is associated with Schwartz-Jampel syndrome type 1 (SJS1), a rare genetic disorder characterized by muscle stiffness, skeletal abnormalities, and other features.

NGS (Next-Generation Sequencing) genetic testing refers to a high-throughput DNA sequencing method that allows for the simultaneous analysis of multiple genes. In the context of SJS1, NGS genetic testing can be used to identify any mutations or variations in the HSPG2 gene that may be responsible for the syndrome.

NGS genetic testing is a powerful tool that can provide comprehensive and detailed information about an individual’s genetic makeup. It can help in the diagnosis of genetic disorders, provide insights into disease prognosis, guide treatment decisions, and assist in genetic counseling for affected individuals and their families.

If a healthcare provider suspects Schwartz-Jampel syndrome type 1 in a patient, they may recommend NGS genetic testing for the HSPG2 gene to confirm the diagnosis. This test typically involves obtaining a blood or saliva sample from the patient, isolating the DNA, and subjecting it to NGS analysis to identify any mutations or variations in the HSPG2 gene.

It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals with expertise in genetics. Genetic counseling is also recommended before and after testing to help individuals and families understand the implications of the test results and make informed decisions about their healthcare.

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