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COL2A1 Gene SMED Strudwick Type Genetic Test Cost

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

-21%

The COL2A1 gene SMED Strudwick type genetic test is a specialized diagnostic tool designed to detect mutations in the COL2A1 gene, which are associated with Spondyloepimetaphyseal Dysplasia (SMED) Strudwick type. This condition is a rare form of dwarfism characterized by skeletal abnormalities, including short stature, abnormal bone development, and other systemic issues. The test is crucial for early diagnosis and management of the condition, enabling healthcare providers to develop a tailored treatment plan for affected individuals.

Performed at DNA Labs UAE, a leading facility in genetic diagnostics, the test involves collecting a DNA sample, typically through a blood draw or a cheek swab. The laboratory utilizes advanced genetic sequencing techniques to meticulously analyze the COL2A1 gene for any mutations that are indicative of SMED Strudwick type.

The cost of the COL2A1 gene SMED Strudwick type genetic test at DNA Labs UAE is 4400 AED. This price reflects the sophisticated technology and expertise required to accurately identify mutations in the COL2A1 gene. For patients and families, the test offers invaluable insights into the genetic underpinnings of SMED Strudwick type, guiding decisions on surveillance, intervention, and family planning.

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COL2A1 Gene SMED Strudwick type Genetic Test

Are you concerned about potential genetic disorders? DNA Labs UAE offers the COL2A1 Gene SMED Strudwick type Genetic Test to help diagnose and understand genetic conditions. Read on to learn more about this test and its components, cost, symptoms, diagnosis, and more.

Test Details

The COL2A1 gene is responsible for encoding a protein called type II collagen, which plays a crucial role in connective tissues like cartilage and the vitreous humor of the eye. Mutations in the COL2A1 gene can lead to various genetic disorders, including Strudwick type, a rare form of skeletal dysplasia characterized by short stature, abnormal spine curvature, and skeletal abnormalities.

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 (Next-Generation Sequencing)
  • Test Type: Dysmorphology
  • Doctor: Pediatrics
  • Test Department: Genetics

Pre Test Information

Before undergoing the COL2A1 Gene SMED Strudwick type 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 the COL2A1 Gene SMED Strudwick type NGS Genetic DNA Test gene COL2A1.

About NGS Technology

Next-Generation Sequencing (NGS) is a high-throughput sequencing technology that enables the rapid sequencing of large amounts of DNA. In the context of genetic testing, NGS is used to analyze the entire coding region of the COL2A1 gene to identify any mutations or variations that may be present. This aids in the diagnosis of Strudwick type and other genetic disorders associated with COL2A1 gene mutations.

SMED (Spondyloepiphyseal dysplasia, Stanescu type)

It is important to note that SMED refers to another type of skeletal dysplasia caused by mutations in the COL2A1 gene. However, Strudwick type and SMED are two distinct disorders with different clinical features.

Summary

The COL2A1 Gene SMED Strudwick type NGS genetic test is a specific genetic test that utilizes next-generation sequencing technology to analyze the COL2A1 gene for mutations associated with Strudwick type and SMED skeletal dysplasias. If you suspect any genetic disorders or want to gain more insights into your genetic health, consider taking this test offered by DNA Labs UAE.

Test Name COL2A1 Gene SMED Strudwick 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 SMED Strudwick type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL2A1 Gene SMED Strudwick 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 genetic disorders, including Strudwick type, which is a rare form of skeletal dysplasia characterized by short stature, abnormal curvature of the spine, and other skeletal abnormalities.

NGS (Next-Generation Sequencing) is a high-throughput sequencing technology that allows for the rapid sequencing of large amounts of DNA. In the context of genetic testing, NGS can be used to analyze the entire coding region of the COL2A1 gene to identify any mutations or variations that may be present. This can help in diagnosing Strudwick type and other genetic disorders associated with COL2A1 gene mutations.

The SMED (Spondyloepiphyseal dysplasia, Stanescu type) refers to another type of skeletal dysplasia caused by mutations in the COL2A1 gene. However, it is important to note that Strudwick type and SMED are two distinct disorders with different clinical features.

In summary, the COL2A1 gene SMED Strudwick type NGS genetic test is a specific genetic test that uses next-generation sequencing technology to analyze the COL2A1 gene for mutations associated with Strudwick type and SMED skeletal dysplasias.

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