HSPG2 Gene Dyssegmental dysplasia Silverman-Handmaker type Genetic Test
Test Name: HSPG2 Gene Dyssegmental dysplasia Silverman-Handmaker type Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
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: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type.
Test Details
The HSPG2 gene provides instructions for producing a protein called perlecan, which is an essential component of the extracellular matrix (ECM). The ECM is a complex network of proteins and other molecules that provides structural support to cells and tissues. Perlecan is particularly important in the development and maintenance of bones, cartilage, and other connective tissues.
Mutations in the HSPG2 gene have been linked to a rare genetic disorder called dyssegmental dysplasia, Silverman-Handmaker type. This condition is characterized by severe skeletal abnormalities, including short stature, curved bones, and abnormal development of the spine and limbs. Other features of dyssegmental dysplasia, Silverman-Handmaker type may include respiratory problems, heart defects, and intellectual disability.
NGS genetic testing can be used to detect mutations in the HSPG2 gene associated with dyssegmental dysplasia, Silverman-Handmaker type. This type of testing involves sequencing the entire HSPG2 gene to identify any changes or variations that may be contributing to the individual’s symptoms. NGS testing is a highly sensitive and specific method for detecting genetic mutations and can provide valuable information for diagnosis, treatment, and genetic counseling.
| Test Name | HSPG2 Gene Dyssegmental dysplasia Silverman-Handmaker type Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type |
| Test Details |
The HSPG2 gene provides instructions for producing a protein called perlecan, which is an essential component of the extracellular matrix (ECM). The ECM is a complex network of proteins and other molecules that provides structural support to cells and tissues. Perlecan is particularly important in the development and maintenance of bones, cartilage, and other connective tissues. Mutations in the HSPG2 gene have been linked to a rare genetic disorder called dyssegmental dysplasia, Silverman-Handmaker type. This condition is characterized by severe skeletal abnormalities, including short stature, curved bones, and abnormal development of the spine and limbs. Other features of dyssegmental dysplasia, Silverman-Handmaker type may include respiratory problems, heart defects, and intellectual disability. NGS genetic testing can be used to detect mutations in the HSPG2 gene associated with dyssegmental dysplasia, Silverman-Handmaker type. This type of testing involves sequencing the entire HSPG2 gene to identify any changes or variations that may be contributing to the individual’s symptoms. NGS testing is a highly sensitive and specific method for detecting genetic mutations and can provide valuable information for diagnosis, treatment, and genetic counseling. |
