Short Description

NGS genetic DNA test detecets for variant and mutation detection in DDR2 gene for Spondylometaepiphyseal dysplasia, short limb-hand type

PreTest Information

Clinical History of Patient who is going for DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type NGS Genetic DNA Test gene DDR2

Detail Description

DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Spondylometaepiphyseal dysplasia, short limb-hand type (SMED-SL) is a rare genetic disorder that affects bone growth. It is caused by mutations in the DDR2 gene. DDR2 provides instructions for making a protein that is involved in the development and maintenance of bones. Mutations in this gene disrupt the normal functioning of the protein, leading to abnormal bone growth and development.

SMED-SL is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated DDR2 gene (one from each parent) to develop the condition. People with only one copy of the mutated gene are called carriers and do not usually show any symptoms of the disorder.

Symptoms of SMED-SL

SMED-SL is characterized by short stature with disproportionately short limbs and hands. Other symptoms include:

• Abnormal curvature of the spine (scoliosis)
• Abnormal development of the bones in the hands and feet
• Abnormal development of the bones in the spine and pelvis
• Joint pain and stiffness
• Difficulty breathing due to abnormal chest development

Diagnosis of SMED-SL

The diagnosis of SMED-SL is usually made based on clinical findings, family history, and genetic testing. X-rays and other imaging studies can be used to evaluate bone development and detect abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the DDR2 gene.

NGS Genetic DNA Test cost for SMED-SL

The cost of NGS Genetic DNA Test for SMED-SL at DNA Labs India is INR 20000. This test uses next-generation sequencing (NGS) technology to analyze the DDR2 gene and identify mutations that cause SMED-SL. This test is highly accurate and can detect even very rare mutations in the gene.

Conclusion

SMED-SL is a rare genetic disorder that affects bone growth and development. It is caused by mutations in the DDR2 gene and is inherited in an autosomal recessive pattern. Symptoms of SMED-SL include short stature with disproportionately short limbs and hands, abnormal curvature of the spine, and joint pain and stiffness. The diagnosis of SMED-SL is usually made based on clinical findings, family history, and genetic testing. NGS Genetic DNA Test for SMED-SL is available at DNA Labs India at a cost of INR 20000.

Spondylometaphyseal dysplasia, short limb-hand type (SMD-SLH), is a rare genetic disorder that affects bone development and leads to short stature, abnormal bone shape, and other skeletal abnormalities. Mutations in the DDR2 gene have been associated with this condition.