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COL2A1 Gene SED Congenita Genetic Test Cost

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

-21%

The COL2A1 gene is crucial for the normal development of bones and other connective tissues. Mutations in this gene are associated with Spondyloepiphyseal Dysplasia Congenita (SED Congenita), a rare genetic disorder characterized by bone growth abnormalities that lead to short stature, skeletal malformations, and sometimes problems with vision and hearing. The COL2A1 Gene SED Congenita Genetic Test is a specialized diagnostic tool designed to detect mutations in the COL2A1 gene, confirming the diagnosis of SED Congenita. This test is particularly important for individuals showing symptoms of the disorder or those with a family history of SED Congenita, as it can provide crucial information for managing the condition.

In the United Arab Emirates, the COL2A1 Gene SED Congenita Genetic Test is available at DNA Labs UAE, a leading facility in genetic testing and diagnostics. The cost of the test is 4400 AED, reflecting the comprehensive analysis and the detailed, personalized report that accompanies the results. Undergoing this test at DNA Labs UAE ensures that patients receive accurate and timely information about their genetic health, enabling them to make informed decisions regarding treatment and management options for conditions like SED Congenita.

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COL2A1 Gene SED congenita Genetic Test

At DNA Labs UAE, we offer the COL2A1 Gene SED congenita Genetic Test to help diagnose and manage Stickler syndrome, a genetic disorder affecting connective tissues in the body. Stickler syndrome can impact various body parts, including the eyes, ears, joints, and skeleton.

Test Details

The COL2A1 gene is associated with Stickler syndrome, specifically the subtype known as SED congenita (Spondyloepiphyseal dysplasia congenita). This subtype primarily affects the skeletal system, causing abnormal growth and development of the bones.

Our COL2A1 Gene SED congenita Genetic Test utilizes NGS (Next-Generation Sequencing) technology, which allows for the simultaneous sequencing of multiple genes. With this test, we can analyze the COL2A1 gene for any genetic variations or mutations that may be associated with SED congenita.

Components

  • Test Name: COL2A1 Gene SED congenita Genetic Test
  • 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

Prior to undergoing the COL2A1 Gene SED congenita NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by COL2A1 Gene SED congenita.

This genetic test is specifically focused on the COL2A1 gene, which is responsible for Stickler syndrome and its SED congenita subtype. By identifying any genetic variations or mutations, this test can confirm a diagnosis and guide appropriate treatment and management options for individuals suspected of having SED congenita.

Test Name COL2A1 Gene SED congenita 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 SED congenita NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL2A1 Gene SED congenita NGS Genetic DNA Test gene COL2A1
Test Details

COL2A1 gene is associated with a genetic disorder called Stickler syndrome, which is characterized by abnormalities in the development of the connective tissues in the body. Stickler syndrome can affect various parts of the body, including the eyes, ears, joints, and skeleton.

NGS (Next-Generation Sequencing) is a genetic testing method that allows for the sequencing of multiple genes simultaneously. In the context of Stickler syndrome, NGS can be used to analyze the COL2A1 gene for any genetic variations or mutations that may be associated with the condition.

SED congenita (Spondyloepiphyseal dysplasia congenita) is a specific subtype of Stickler syndrome that primarily affects the skeletal system, causing abnormal growth and development of the bones.

Therefore, a COL2A1 gene SED congenita NGS genetic test would involve sequencing the COL2A1 gene to identify any genetic variations or mutations that may be associated with SED congenita, a specific subtype of Stickler syndrome characterized by skeletal abnormalities. This test can help in confirming a diagnosis and guiding appropriate treatment and management options for individuals suspected of having SED congenita.

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