PIEZO2 Gene Marden-Walker syndrome Genetic Test
Components: PIEZO2 Gene Marden-Walker syndrome Genetic Test
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 PIEZO2 Gene Marden-Walker syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIEZO2 Gene Marden-Walker syndrome NGS Genetic DNA Test gene PIEZO2
Test Details
The PIEZO2 gene is responsible for encoding the PIEZO2 protein, which is involved in the sense of touch and proprioception (the ability to sense the position and movement of one’s body). Mutations in the PIEZO2 gene can lead to a condition known as Marden-Walker syndrome.
Marden-Walker syndrome is a rare genetic disorder characterized by multiple joint contractures (stiffness), muscle weakness, and facial anomalies. Individuals with this syndrome often have difficulty with motor skills and may also experience intellectual disability and respiratory problems.
NGS (Next-Generation Sequencing) is a type of genetic testing that allows for the simultaneous analysis of multiple genes, including the PIEZO2 gene. This technology enables the detection of genetic mutations or variants that may be responsible for Marden-Walker syndrome. NGS testing can provide a comprehensive assessment of an individual’s genetic makeup and help in the diagnosis of genetic disorders.
Genetic testing for Marden-Walker syndrome using NGS involves collecting a DNA sample, typically through a blood sample or saliva swab. The DNA is then sequenced using NGS technology to identify any mutations or variants in the PIEZO2 gene.
The results of the test can provide valuable information for diagnosis, genetic counseling, and potential treatment options. It is important to note that genetic testing for Marden-Walker syndrome using NGS is typically performed by healthcare professionals with expertise in genetics. The test may not be available in all healthcare settings and may require a referral to a specialized genetic testing laboratory.
| Test Name | PIEZO2 Gene Marden-Walker 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 PIEZO2 Gene Marden-Walker syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIEZO2 Gene Marden-Walker syndrome NGS Genetic DNA Test gene PIEZO2 |
| Test Details |
The PIEZO2 gene is responsible for encoding the PIEZO2 protein, which is involved in the sense of touch and proprioception (the ability to sense the position and movement of one’s body). Mutations in the PIEZO2 gene can lead to a condition known as Marden-Walker syndrome. Marden-Walker syndrome is a rare genetic disorder characterized by multiple joint contractures (stiffness), muscle weakness, and facial anomalies. Individuals with this syndrome often have difficulty with motor skills and may also experience intellectual disability and respiratory problems. NGS (Next-Generation Sequencing) is a type of genetic testing that allows for the simultaneous analysis of multiple genes, including the PIEZO2 gene. This technology enables the detection of genetic mutations or variants that may be responsible for Marden-Walker syndrome. NGS testing can provide a comprehensive assessment of an individual’s genetic makeup and help in the diagnosis of genetic disorders. Genetic testing for Marden-Walker syndrome using NGS involves collecting a DNA sample, typically through a blood sample or saliva swab. The DNA is then sequenced using NGS technology to identify any mutations or variants in the PIEZO2 gene. The results of the test can provide valuable information for diagnosis, genetic counseling, and potential treatment options. It is important to note that genetic testing for Marden-Walker syndrome using NGS is typically performed by healthcare professionals with expertise in genetics. The test may not be available in all healthcare settings and may require a referral to a specialized genetic testing laboratory. |
