DDR2 Gene Spondylometaepiphyseal dysplasia short limb-hand 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
Osteology Dermatology Immunology Disorders
Doctor
Dermatologist
Test Department
Genetics
Pre Test Information
Clinical History of Patient who is going for DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type NGS Genetic DNA Test gene DDR2
Test Details
DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type (SMED-SL) is a rare genetic disorder characterized by skeletal abnormalities, including short limbs and hands, abnormal curvature of the spine (scoliosis and kyphosis), and early-onset joint degeneration. It is caused by mutations in the DDR2 gene. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technology to analyze multiple genes simultaneously. This technique allows for the detection of mutations or variations in the DDR2 gene, which can confirm a diagnosis of SMED-SL. NGS genetic testing is beneficial in diagnosing genetic disorders like SMED-SL because it can identify specific mutations in the DDR2 gene quickly and accurately. This information can help healthcare professionals determine the best course of treatment and management for individuals with SMED-SL. It can also provide important information for genetic counseling and family planning. If you suspect that you or someone you know may have SMED-SL, it is important to consult with a healthcare professional or a geneticist who can recommend and facilitate the appropriate genetic testing, including NGS testing if necessary.
Test Name | DDR2 Gene Spondylometaepiphyseal dysplasia short limb-hand 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 | Osteology Dermatology Immunology Disorders |
Doctor | Dermatologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type NGS Genetic DNA Test gene DDR2 |
Test Details |
DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type (SMED-SL) is a rare genetic disorder characterized by skeletal abnormalities, including short limbs and hands, abnormal curvature of the spine (scoliosis and kyphosis), and early-onset joint degeneration. It is caused by mutations in the DDR2 gene. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technology to analyze multiple genes simultaneously. This technique allows for the detection of mutations or variations in the DDR2 gene, which can confirm a diagnosis of SMED-SL. NGS genetic testing is beneficial in diagnosing genetic disorders like SMED-SL because it can identify specific mutations in the DDR2 gene quickly and accurately. This information can help healthcare professionals determine the best course of treatment and management for individuals with SMED-SL. It can also provide important information for genetic counseling and family planning. If you suspect that you or someone you know may have SMED-SL, it is important to consult with a healthcare professional or a geneticist who can recommend and facilitate the appropriate genetic testing, including NGS testing if necessary. |