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COL2A1 Gene Epiphyseal Dysplasia Multiple with Myopia and Deafness Genetic Test Cost

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

-21%

The COL2A1 gene plays a crucial role in the development and maintenance of the skeletal system, particularly in the formation of collagen which is essential for the strength and integrity of cartilage. Mutations in the COL2A1 gene can lead to a rare condition known as Multiple Epiphyseal Dysplasia (MED) with Myopia and Deafness. This genetic disorder is characterized by abnormalities in the growing ends of bones (epiphyses), leading to skeletal deformities, short stature, and joint pain. Additionally, individuals with this condition often experience nearsightedness (myopia) and varying degrees of hearing loss.

To diagnose this condition, a genetic test targeting the COL2A1 gene can be conducted. DNA Labs UAE offers this specific genetic test, allowing for the identification of mutations in the COL2A1 gene that are responsible for the disorder. The test is priced at 4400 AED and involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory for the presence of genetic abnormalities associated with Multiple Epiphyseal Dysplasia with Myopia and Deafness.

This genetic testing is vital for the accurate diagnosis of the condition, which can aid in the management and treatment of symptoms, and also provide valuable information for family planning. It is recommended for individuals showing symptoms of the disorder or those with a family history of similar conditions.

Description

COL2A1 Gene Epiphyseal Dysplasia Multiple with Myopia and Deafness Genetic Test

Test Name: COL2A1 Gene Epiphyseal dysplasia multiple with myopia and deafness Genetic Test

Components: COL2A1 gene

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 Epiphyseal dysplasia, multiple, with myopia and deafness NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL2A1 Gene Epiphyseal dysplasia, multiple, with myopia and deafness NGS Genetic DNA Test gene COL2A1

Test Details: The COL2A1 gene is responsible for providing instructions to make a protein called type II collagen. Mutations in this gene can cause a rare genetic disorder known as epiphyseal dysplasia, multiple, with myopia and deafness (EDMMD). EDMMD is characterized by multiple skeletal abnormalities, including abnormal development of the ends of long bones (epiphyses), leading to short stature and joint pain. Individuals with this condition may also have nearsightedness (myopia) and hearing loss. NGS genetic testing refers to Next-Generation Sequencing, a technique used to analyze multiple genes simultaneously for mutations or variations. In the case of EDMMD, 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 or diagnosed EDMMD, as it can provide a definitive diagnosis, inform reproductive planning, and guide management and treatment decisions. It can also help identify at-risk family members who may benefit from early intervention or surveillance.

Test Name	COL2A1 Gene Epiphyseal dysplasia multiple with myopia and deafness 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 Epiphyseal dysplasia, multiple, with myopia and deafness NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL2A1 Gene Epiphyseal dysplasia, multiple, with myopia and deafness NGS Genetic DNA Test gene COL2A1
Test Details	The COL2A1 gene is responsible for providing instructions to make a protein called type II collagen. Mutations in this gene can cause a rare genetic disorder known as epiphyseal dysplasia, multiple, with myopia and deafness (EDMMD). EDMMD is characterized by multiple skeletal abnormalities, including abnormal development of the ends of long bones (epiphyses), leading to short stature and joint pain. Individuals with this condition may also have nearsightedness (myopia) and hearing loss. NGS genetic testing refers to Next-Generation Sequencing, a technique used to analyze multiple genes simultaneously for mutations or variations. In the case of EDMMD, 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 or diagnosed EDMMD, as it can provide a definitive diagnosis, inform reproductive planning, and guide management and treatment decisions. It can also help identify at-risk family members who may benefit from early intervention or surveillance.