Sale!

SMARCAL1 Gene Schimke Immunoosseous Dysplasia Genetic Test

Name: SMARCAL1 Gene Schimke Immunoosseous Dysplasia Genetic Test
SKU: TEST-3938
Price: 4400 AED
Availability: InStock

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

-21%

Schimke Immunoosseous Dysplasia (SIOD) is a rare, autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, renal disease, and T-cell immunodeficiency. The condition is attributed to mutations in the SMARCAL1 gene, which plays a crucial role in DNA repair and maintenance of genomic stability. Early diagnosis of SIOD is essential for managing symptoms and improving the quality of life for affected individuals.

The SMARCAL1 Gene Schimke Immunoosseous Dysplasia Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE, designed to detect mutations in the SMARCAL1 gene that are associated with the condition. This test is critical for confirming a clinical diagnosis of SIOD, enabling genetic counseling, and facilitating family planning decisions.

The test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory to identify any genetic alterations in the SMARCAL1 gene. DNA Labs UAE employs advanced genetic sequencing technologies to ensure accurate and reliable results.

The cost of the SMARCAL1 Gene Schimke Immunoosseous Dysplasia Genetic Test at DNA Labs UAE is 4400 AED. This price includes the cost of the sample collection, genetic analysis, and a comprehensive report detailing the findings. Patients and healthcare providers are encouraged to discuss the implications of the test results and explore appropriate management strategies for SIOD.

By offering this genetic test, DNA Labs UAE provides a vital resource for individuals and families affected by Schimke Immunoosseous Dysplasia, contributing to better disease understanding, management, and research into potential treatments.

Description

SMARCAL1 Gene Schimke immunoosseous dysplasia Genetic Test

Test Name: SMARCAL1 Gene Schimke immunoosseous dysplasia Genetic Test

Components: Blood or Extracted DNA or One drop Blood on FTA Card

Price: 4400.0 AED

Report Delivery: 3 to 4 Weeks

Method: NGS Technology

Test type: Hematology

Doctor: Hematologist

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for SMARCAL1 Gene Schimke immunoosseous dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMARCAL1 Gene Schimke immunoosseous dysplasia NGS Genetic DNA Test gene SMARCAL1

Test Details: The SMARCAL1 gene is responsible for providing instructions for making a protein called SMARCAL1. This protein is involved in DNA repair and maintenance of DNA structure. Mutations in the SMARCAL1 gene can lead to a rare genetic disorder called Schimke immunoosseous dysplasia (SIOD). SIOD is a multisystem disorder characterized by short stature, kidney disease, immune system abnormalities, and skeletal abnormalities. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated SMARCAL1 gene (one from each parent) to develop the disorder.

NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously, providing a comprehensive view of an individual’s genetic makeup. In the context of SMARCAL1 gene and SIOD, NGS genetic testing can be used to identify mutations or variations in the SMARCAL1 gene that may be responsible for causing the disorder. By identifying these mutations, NGS genetic testing can help confirm a diagnosis of SIOD in individuals with symptoms suggestive of the disorder. It can also be used for carrier testing in individuals with a family history of SIOD, allowing them to understand their risk of passing the condition on to their children. Overall, NGS genetic testing for the SMARCAL1 gene is an important tool in the diagnosis and management of SIOD, providing valuable information for affected individuals and their families.

Test Name	SMARCAL1 Gene Schimke immunoosseous dysplasia 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	Hematology
Doctor	Hematologist
Test Department:	Genetics
Pre Test Information	Clinical History of Patient who is going for SMARCAL1 Gene Schimke immunoosseous dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMARCAL1 Gene Schimke immunoosseous dysplasia NGS Genetic DNA Test gene SMARCAL1
Test Details	The SMARCAL1 gene is responsible for providing instructions for making a protein called SMARCAL1. This protein is involved in DNA repair and maintenance of DNA structure. Mutations in the SMARCAL1 gene can lead to a rare genetic disorder called Schimke immunoosseous dysplasia (SIOD). SIOD is a multisystem disorder characterized by short stature, kidney disease, immune system abnormalities, and skeletal abnormalities. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated SMARCAL1 gene (one from each parent) to develop the disorder. NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously, providing a comprehensive view of an individual’s genetic makeup. In the context of SMARCAL1 gene and SIOD, NGS genetic testing can be used to identify mutations or variations in the SMARCAL1 gene that may be responsible for causing the disorder. By identifying these mutations, NGS genetic testing can help confirm a diagnosis of SIOD in individuals with symptoms suggestive of the disorder. It can also be used for carrier testing in individuals with a family history of SIOD, allowing them to understand their risk of passing the condition on to their children. Overall, NGS genetic testing for the SMARCAL1 gene is an important tool in the diagnosis and management of SIOD, providing valuable information for affected individuals and their families.