CLMP Gene Congenital short-bowel syndrome Genetic Test
Test Name: CLMP Gene Congenital short-bowel syndrome Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
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 CLMP Gene Congenital short-bowel syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CLMP Gene Congenital short-bowel syndrome NGS Genetic DNA Test gene CLMP
Test Details
Congenital short-bowel syndrome (CSBS) is a rare genetic disorder characterized by the underdevelopment or absence of a significant portion of the small intestine. This condition results in a reduced ability to absorb nutrients from food, leading to malnutrition, dehydration, and other complications.
CSBS can be caused by mutations in various genes, one of which is the CLMP gene. The CLMP gene (also known as AJM1) provides instructions for producing a protein called claudin-like membrane protein. This protein is involved in the formation of tight junctions, which are specialized structures that seal the gaps between cells in the intestinal lining. Tight junctions play a crucial role in maintaining the integrity and function of the intestinal barrier.
Mutations in the CLMP gene can disrupt the normal functioning of tight junctions, leading to impaired nutrient absorption and the development of CSBS. These mutations can be inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.
Next-generation sequencing (NGS) genetic testing is a powerful tool used to identify mutations in the CLMP gene and other genes associated with CSBS. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive evaluation of the genetic factors contributing to the disorder. This testing method can help confirm a diagnosis, guide treatment decisions, and provide information about the likelihood of the condition occurring in future pregnancies.
It is important to note that genetic testing for CSBS should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support. Additionally, NGS testing may not be available in all healthcare settings and can be costly, so its use should be considered on a case-by-case basis.
| Test Name | CLMP Gene Congenital short-bowel syndrome 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 CLMP Gene Congenital short-bowel syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CLMP Gene Congenital short-bowel syndrome NGS Genetic DNA Test gene CLMP |
| Test Details |
Congenital short-bowel syndrome (CSBS) is a rare genetic disorder characterized by the underdevelopment or absence of a significant portion of the small intestine. This condition results in a reduced ability to absorb nutrients from food, leading to malnutrition, dehydration, and other complications. CSBS can be caused by mutations in various genes, one of which is the CLMP gene. The CLMP gene (also known as AJM1) provides instructions for producing a protein called claudin-like membrane protein. This protein is involved in the formation of tight junctions, which are specialized structures that seal the gaps between cells in the intestinal lining. Tight junctions play a crucial role in maintaining the integrity and function of the intestinal barrier. Mutations in the CLMP gene can disrupt the normal functioning of tight junctions, leading to impaired nutrient absorption and the development of CSBS. These mutations can be inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Next-generation sequencing (NGS) genetic testing is a powerful tool used to identify mutations in the CLMP gene and other genes associated with CSBS. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive evaluation of the genetic factors contributing to the disorder. This testing method can help confirm a diagnosis, guide treatment decisions, and provide information about the likelihood of the condition occurring in future pregnancies. It is important to note that genetic testing for CSBS should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support. Additionally, NGS testing may not be available in all healthcare settings and can be costly, so its use should be considered on a case-by-case basis. |
