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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: 3,200 د.إ.

-43%

The B3GALT6 gene plays a crucial role in the development and maintenance of connective tissue, a key component of the body’s structural framework. Mutations in this gene can lead to 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.

To diagnose this condition, a genetic test targeting the B3GALT6 gene can be conducted. This test is available at DNA Labs UAE, a reputable facility known for its advanced genetic testing services. The cost of the test is 3200 AED. Through this test, individuals suspected of having SEMDJL1 can receive a definitive diagnosis, enabling them to pursue appropriate treatment and management strategies for the condition. Early diagnosis through genetic testing is crucial for managing symptoms and improving the quality of life for affected individuals.

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B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity type 1 with or without fractures Genetic Test

Are you concerned about Spondyloepimetaphyseal dysplasia with joint laxity type 1 with or without fractures? DNA Labs UAE offers a comprehensive genetic test that can provide valuable insights into this condition.

Test Details

The B3GALT6 gene is associated with a genetic disorder called Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures. This disorder is characterized by abnormalities in bone development, particularly in the spine, long bones, and joints. Individuals with this condition may have short stature, a short neck, abnormal curvature of the spine, joint laxity, and fractures.

The NGS genetic test offered by DNA Labs UAE can analyze the B3GALT6 gene to identify any mutations or variations that may be responsible for this disorder. This information can help in the diagnosis, management, and genetic counseling of individuals and families affected by this condition.

Test Components and Price

The B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity type 1 with or without fractures Genetic Test is priced at 3200.0 AED. The test can be conducted using a blood sample, extracted DNA, or one drop of blood on an FTA card.

Report Delivery

After the test is conducted, the report will be delivered within 3 to 4 weeks.

Method

The test utilizes NGS (Next-Generation Sequencing) technology for accurate and efficient analysis.

Test Type

The B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity type 1 with or without fractures Genetic Test falls under the categories of Osteology, Dermatology, and Immunology Disorders.

Doctor and Test Department

The test is conducted by a Dermatologist and falls under the Genetics department at DNA Labs UAE.

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 important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by this condition.

By opting for this genetic test, individuals and families can gain valuable insights into Spondyloepimetaphyseal dysplasia with joint laxity type 1 with or without fractures. This information can aid in diagnosis, management, and genetic counseling.

Test Name B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity type 1 with or without fractures Genetic Test
Components
Price 3200.0 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 Osteology Dermatology Immunology Disorders
Doctor Dermatologist
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 genetic disorder called Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures. This disorder is characterized by abnormalities in bone development, particularly in the spine, long bones, and joints. Individuals with this condition may have short stature, a short neck, abnormal curvature of the spine, joint laxity, and fractures. The NGS genetic test can analyze the B3GALT6 gene to identify any mutations or variations that may be responsible for this disorder. This information can help in the diagnosis, management, and genetic counseling of individuals and families affected by this condition.