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

Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures (SEMDJL1) is a rare genetic disorder that affects bone development. This disorder is caused by mutations in the B3GALT6 gene. The B3GALT6 gene provides instructions for making an enzyme that is involved in the production of proteoglycans, which are important components of cartilage and bone. Mutations in the B3GALT6 gene can disrupt the normal production of proteoglycans, leading to abnormal bone and cartilage development.

Symptoms of SEMDJL1

The symptoms of SEMDJL1 can vary widely among affected individuals. Some common symptoms of SEMDJL1 include:

• Short stature
• Abnormal curvature of the spine (scoliosis)
• Joint laxity (loose joints)
• Widening of the metaphyses (the wider part of a long bone near the growth plate)
• Fractures
• Delayed bone age
• Flat face with a short nose and a small chin
• Abnormal development of the hip joint

Diagnosis of SEMDJL1

SEMDJL1 is diagnosed through genetic testing. Next-generation sequencing (NGS) is a commonly used method for genetic testing. NGS can detect mutations in the B3GALT6 gene with a high degree of accuracy. If SEMDJL1 is suspected, a genetic counselor or healthcare provider can order a genetic test to confirm the diagnosis.

Cost of SEMDJL1 Genetic DNA Test

The cost of SEMDJL1 genetic DNA testing in India is approximately INR 20,000. This cost may vary depending on the testing laboratory and the specific tests ordered.

Conclusion

SEMDJL1 is a rare genetic disorder that affects bone development. It is caused by mutations in the B3GALT6 gene and can lead to a variety of symptoms, including short stature, joint laxity, and fractures. SEMDJL1 is diagnosed through genetic testing, which can be done using NGS technology. The cost of SEMDJL1 genetic DNA testing in India is approximately INR 20,000. If SEMDJL1 is suspected, it is important to consult with a genetic counselor or healthcare provider to determine the best course of action.

For more information on genetic testing and DNA labs in India, please visit DNA Labs India.

The B3GALT6 gene is associated with a rare genetic disorder known as Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1 (SEMD-JL1). This condition is characterized by skeletal abnormalities affecting the spine, epiphyses (the ends of long bones), and joints, as well as joint hypermobility or laxity. Individuals with SEMD-JL1 may also experience fractures due to the weakened bone structure.