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COL2A1 Gene Platyspondylic Skeletal Dysplasia Torrance Type Genetic Test Cost

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

-21%

The COL2A1 Gene Platyspondylic Skeletal Dysplasia Torrance Type Genetic Test is a specialized diagnostic examination offered by DNA Labs UAE, designed to identify mutations in the COL2A1 gene, which are responsible for the rare genetic disorder known as Platyspondylic Skeletal Dysplasia, Torrance Type. This condition is characterized by significant skeletal abnormalities including platyspondyly (flattened vertebrae), short stature, and other bone growth anomalies. The test is crucial for early diagnosis, which can significantly impact the management and treatment strategies for affected individuals. The cost of the test is 4400 AED, reflecting the sophisticated technology and expertise required to accurately detect the specific genetic alterations associated with this condition. Through DNA Labs UAE, patients and healthcare providers can access this important genetic testing service to better understand and manage this rare skeletal dysplasia.

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COL2A1 Gene Platyspondylic Skeletal Dysplasia Torrance Type Genetic Test

Genetic Test Cost: AED 4400.0

Test Components:

  • COL2A1 Gene Platyspondylic skeletal dysplasia Torrance type Genetic Test

Price: AED 4400.0

Sample Condition:

  • Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery: 3 to 4 Weeks

Method: NGS Technology

Test Type: Dysmorphology

Doctor: Pediatrics

Test Department: Genetics

Pre Test Information:

Clinical History of Patient who is going for COL2A1 Gene Platyspondylic skeletal dysplasia, Torrance type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL2A1 Gene Platyspondylic skeletal dysplasia, Torrance type NGS Genetic DNA Test gene COL2A1.

Test Details:

The COL2A1 gene is responsible for encoding a protein called type II collagen, which is a major component of connective tissues such as cartilage and the vitreous humor of the eye. Mutations in the COL2A1 gene can lead to various skeletal dysplasias, including platyspondylic skeletal dysplasia, Torrance type. Platyspondylic skeletal dysplasia, Torrance type is a rare genetic disorder characterized by abnormal development of the bones in the spine (vertebrae). Individuals with this condition have flattened vertebral bodies, which can cause short stature and skeletal abnormalities. Other features may include joint stiffness, cleft palate, and hearing loss.

NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously for the presence of mutations. It allows for a more comprehensive analysis of genetic variations compared to traditional sequencing methods. In the case of platyspondylic skeletal dysplasia, Torrance type, NGS genetic testing can be used to identify mutations in the COL2A1 gene, helping to confirm a diagnosis.

Genetic testing can be beneficial for individuals with suspected genetic disorders, as it can provide a definitive diagnosis, guide treatment options, and help with family planning. It is important to consult with a healthcare professional or genetic counselor to discuss the appropriateness and implications of genetic testing in specific cases.

Test Name COL2A1 Gene Platyspondylic skeletal dysplasia Torrance type Genetic Test
Components
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 Dysmorphology
Doctor Pediatrics
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for COL2A1 Gene Platyspondylic skeletal dysplasia, Torrance type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL2A1 Gene Platyspondylic skeletal dysplasia, Torrance type NGS Genetic DNA Test gene COL2A1
Test Details

The COL2A1 gene is responsible for encoding a protein called type II collagen, which is a major component of connective tissues such as cartilage and the vitreous humor of the eye. Mutations in the COL2A1 gene can lead to various skeletal dysplasias, including platyspondylic skeletal dysplasia, Torrance type.

Platyspondylic skeletal dysplasia, Torrance type is a rare genetic disorder characterized by abnormal development of the bones in the spine (vertebrae). Individuals with this condition have flattened vertebral bodies, which can cause short stature and skeletal abnormalities. Other features may include joint stiffness, cleft palate, and hearing loss.

NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously for the presence of mutations. It allows for a more comprehensive analysis of genetic variations compared to traditional sequencing methods. In the case of platyspondylic skeletal dysplasia, Torrance type, NGS genetic testing can be used to identify mutations in the COL2A1 gene, helping to confirm a diagnosis.

Genetic testing can be beneficial for individuals with suspected genetic disorders, as it can provide a definitive diagnosis, guide treatment options, and help with family planning. It is important to consult with a healthcare professional or genetic counselor to discuss the appropriateness and implications of genetic testing in specific cases.

SKU: TEST-4316