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B3GALT6 Gene Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 with or Without Fractures Genetic Test

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

-21%

The B3GALT6 gene is associated with a rare genetic disorder known as Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1, with or without fractures (SEMDJL1). This condition is characterized by skeletal abnormalities, including short stature, joint laxity, and in some cases, frequent fractures. The B3GALT6 gene plays a crucial role in the biosynthesis of glycosaminoglycans, essential components of the extracellular matrix that contribute to the structural integrity of connective tissues.

To diagnose this condition accurately, a genetic test targeting the B3GALT6 gene can be performed. DNA Labs UAE offers this specialized genetic testing service, allowing for the detection of mutations in the B3GALT6 gene that are indicative of Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1. The test is crucial for confirming the diagnosis, understanding the disease’s prognosis, and guiding treatment decisions.

The cost of the B3GALT6 gene test at DNA Labs UAE is 4400 AED. This test is performed using advanced genetic sequencing technologies to ensure high accuracy and reliability. By opting for this test, patients and their families can gain valuable insights into the genetic basis of the condition, enabling informed healthcare and management decisions.

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B3GALT6 Gene Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 with or without Fractures Genetic Test

Welcome to DNA Labs UAE, your trusted genetic testing laboratory in the UAE. We offer a comprehensive genetic test for the B3GALT6 gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 with or without Fractures (SEMDJL1).

Test Details

The B3GALT6 gene is linked to a rare genetic disorder known as Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 (SEMDJL1). This condition primarily affects bone and joint development, resulting in skeletal abnormalities and joint laxity. Individuals with SEMDJL1 may also experience frequent fractures.

Our genetic test utilizes NGS (Next-Generation Sequencing) technology, which allows us to analyze multiple genes simultaneously. Specifically, we focus on the B3GALT6 gene to identify any disease-causing mutations or variations associated with SEMDJL1.

By detecting mutations or variations in the B3GALT6 gene, our NGS genetic test can confirm a diagnosis of SEMDJL1 and provide essential information for medical management and genetic counseling. Additionally, this test can be used for carrier testing and prenatal diagnosis in families with a known history of SEMDJL1.

Please note that it is crucial to consult with a healthcare professional or genetic counselor for further guidance and information regarding genetic testing for SEMDJL1 or any other genetic disorder.

Test Name: B3GALT6 Gene Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 with or without Fractures Genetic Test

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: Dysmorphology
  • Doctor: Pediatrics
  • Test Department: Genetics

Pre-Test Information

Prior to undergoing the B3GALT6 Gene Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 with or without Fractures NGS Genetic DNA Test, it is essential to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to create a pedigree chart of family members affected by SEMDJL1.

Genetic counseling is a valuable resource that can provide guidance and support throughout the testing process.

For further information and to schedule an appointment, please contact our Genetics Test Department.

Test Name B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity type 1 with or without fractures 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 Dysmorphology
Doctor Pediatrics
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NGS Genetic DNA Test gene B3GALT6
Test Details

The B3GALT6 gene is associated with a rare genetic disorder called Spondyloepimetaphyseal dysplasia with joint laxity, type 1 (SEMDJL1). This disorder affects bone and joint development, leading to skeletal abnormalities and joint laxity. Individuals with SEMDJL1 may also experience frequent fractures.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of SEMDJL1, NGS can be used to analyze the B3GALT6 gene for any potential disease-causing mutations or variations.

By identifying mutations or variations in the B3GALT6 gene, NGS genetic testing can help confirm a diagnosis of SEMDJL1 and provide valuable information for medical management and genetic counseling. It can also be used for carrier testing and prenatal diagnosis in families with a known history of SEMDJL1.

It is important to consult with a healthcare professional or genetic counselor for further information and guidance regarding genetic testing for SEMDJL1 or any other genetic disorder.

SKU: TEST-4395 Category:

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