Short Description

NGS genetic DNA test detecets for variant and mutation detection in B3GALT6 gene for Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

PreTest 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

Detail Description

B3GALT6 Gene Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or without Fractures NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Spondyloepimetaphyseal dysplasia with joint laxity, type 1 (SEMDJL1) is a rare genetic disorder that affects skeletal growth and development. It is caused by mutations in the B3GALT6 gene, which provides instructions for making an enzyme that is involved in the production of a molecule called glycosaminoglycan (GAG). GAGs are important components of cartilage and bone, and mutations in the B3GALT6 gene can disrupt their formation, leading to the skeletal abnormalities characteristic of SEMDJL1.

Symptoms of SEMDJL1

The symptoms of SEMDJL1 can vary widely, even among people with the same genetic mutation. However, some common signs and symptoms of SEMDJL1 include:

• Short stature
• Joint laxity (loose joints)
• Abnormal curvature of the spine (scoliosis)
• Widening of the long bones in the arms and legs (metaphyseal widening)
• Frequent fractures

Diagnosis of SEMDJL1

SEMDJL1 is diagnosed through a combination of physical exams, imaging tests, and genetic testing. Doctors may use X-rays, CT scans, or MRIs to look for skeletal abnormalities in people with suspected SEMDJL1. Genetic testing can confirm the diagnosis by identifying mutations in the B3GALT6 gene.

NGS Genetic DNA Test for SEMDJL1

The most reliable way to diagnose SEMDJL1 is through genetic testing. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once, making it an efficient and cost-effective way to diagnose rare genetic disorders like SEMDJL1. DNA Labs India offers an NGS genetic DNA test for SEMDJL1 that costs INR 20000.

Conclusion

SEMDJL1 is a rare genetic disorder that can cause significant skeletal abnormalities and other health problems. Genetic testing is the most reliable way to diagnose SEMDJL1, and NGS testing can provide a comprehensive analysis of multiple genes at once. If you or a loved one are experiencing symptoms of SEMDJL1, talk to your doctor about genetic testing options.