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HSPG2 Gene Dyssegmental Dysplasia Silverman-Handmaker Type Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The HSPG2 gene dyssegmental dysplasia Silverman-Handmaker type genetic test is a specialized diagnostic tool designed to identify mutations in the HSPG2 gene, which are responsible for causing dyssegmental dysplasia Silverman-Handmaker type. This rare genetic disorder is characterized by severe skeletal abnormalities that affect the development of the ribs and limbs, leading to significant physical impairments. The condition is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations.

The test is conducted at DNA Labs UAE, a reputable facility known for its advanced genetic testing capabilities. The process involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory to detect any mutations in the HSPG2 gene. This test is crucial for accurate diagnosis and can also be used for carrier testing in individuals with a family history of the condition, as well as for prenatal diagnosis.

The cost of the HSPG2 gene dyssegmental dysplasia Silverman-Handmaker type genetic test at DNA Labs UAE is 4400 AED. While the price may seem steep, the test provides invaluable information for affected individuals and their families, offering insights into the condition and informing decisions regarding management and care. Early and precise diagnosis through genetic testing can significantly impact the quality of life for those with dyssegmental dysplasia Silverman-Handmaker type and assist healthcare providers in developing the most appropriate treatment plans.

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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.