LBR Gene Greenberg Skeletal Dysplasia Genetic Test
Test Name: LBR Gene Greenberg skeletal dysplasia Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
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 LBR Gene Greenberg skeletal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LBR Gene Greenberg skeletal dysplasia NGS Genetic DNA Test gene LBR
Test Details: The LBR Gene Greenberg skeletal dysplasia NGS Genetic Test is a genetic test that is used to identify mutations in the LBR gene associated with skeletal dysplasia. Skeletal dysplasia is a group of genetic disorders that affect bone and cartilage development, leading to abnormal growth and structure of the skeleton. The LBR gene provides instructions for making a protein called lamin B receptor, which is involved in maintaining the structure and function of the cell nucleus. Mutations in this gene can disrupt normal skeletal development and result in skeletal dysplasia.
NGS, or next-generation sequencing, is a high-throughput DNA sequencing technology that allows for the simultaneous analysis of multiple genes or even the entire genome. In the case of the LBR Gene Greenberg skeletal dysplasia NGS Genetic Test, it involves sequencing the LBR gene to identify any mutations or variations that may be present.
This genetic test can be used for diagnostic purposes to confirm a suspected diagnosis of skeletal dysplasia in individuals with characteristic symptoms and features. It can also be used for carrier testing in individuals with a family history of skeletal dysplasia to determine if they carry a mutation in the LBR gene. Additionally, this test can be used for prenatal testing to identify mutations in the LBR gene in a fetus if there is a family history of skeletal dysplasia or if ultrasound findings suggest the presence of skeletal abnormalities.
The results of the LBR Gene Greenberg skeletal dysplasia NGS Genetic Test can provide valuable information for medical management, genetic counseling, and family planning. It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals who specialize in genetics.
Test Name | LBR Gene Greenberg skeletal dysplasia 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 LBR Gene Greenberg skeletal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LBR Gene Greenberg skeletal dysplasia NGS Genetic DNA Test gene LBR |
Test Details |
LBR Gene Greenberg skeletal dysplasia NGS Genetic Test is a genetic test that is used to identify mutations in the LBR gene associated with skeletal dysplasia. Skeletal dysplasia is a group of genetic disorders that affect bone and cartilage development, leading to abnormal growth and structure of the skeleton. The LBR gene provides instructions for making a protein called lamin B receptor, which is involved in maintaining the structure and function of the cell nucleus. Mutations in this gene can disrupt normal skeletal development and result in skeletal dysplasia. NGS, or next-generation sequencing, is a high-throughput DNA sequencing technology that allows for the simultaneous analysis of multiple genes or even the entire genome. In the case of the LBR Gene Greenberg skeletal dysplasia NGS Genetic Test, it involves sequencing the LBR gene to identify any mutations or variations that may be present. This genetic test can be used for diagnostic purposes to confirm a suspected diagnosis of skeletal dysplasia in individuals with characteristic symptoms and features. It can also be used for carrier testing in individuals with a family history of skeletal dysplasia to determine if they carry a mutation in the LBR gene. Additionally, this test can be used for prenatal testing to identify mutations in the LBR gene in a fetus if there is a family history of skeletal dysplasia or if ultrasound findings suggest the presence of skeletal abnormalities. The results of the LBR Gene Greenberg skeletal dysplasia NGS Genetic Test can provide valuable information for medical management, genetic counseling, and family planning. It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals who specialize in genetics. |