SMAD4 Gene Myhre Syndrome Genetic Test
Test Name: SMAD4 Gene Myhre Syndrome Genetic Test
Components: SMAD4 gene analysis
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 SMAD4 Gene Myhre Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMAD4 Gene Myhre Syndrome NGS Genetic DNA Test gene SMAD4.
Test Details
The SMAD4 gene is responsible for encoding a protein that plays a crucial role in cell signaling pathways, particularly those involved in regulating cell growth and differentiation. Mutations in the SMAD4 gene can lead to a condition called Myhre Syndrome.
Myhre Syndrome is a rare genetic disorder characterized by various physical and developmental abnormalities. Some common features of Myhre Syndrome include:
- Short stature
- Facial dysmorphism (unusual facial features)
- Muscle stiffness
- Joint limitations
- Hearing loss
- Heart defects
The severity and specific symptoms can vary among individuals with this condition.
Next-generation sequencing (NGS) is a type of genetic testing that allows for the simultaneous analysis of multiple genes, including the SMAD4 gene. NGS can identify specific mutations or variations in the SMAD4 gene that may be associated with Myhre Syndrome.
NGS genetic testing for Myhre Syndrome typically involves obtaining a DNA sample from the individual being tested, which can be done through a blood sample or a cheek swab. The DNA is then sequenced using NGS technology to identify any potential mutations or variations in the SMAD4 gene.
Genetic testing for Myhre Syndrome can help confirm a diagnosis, guide treatment decisions, and provide information about the risk of passing the condition on to future generations. It can also help with genetic counseling and family planning.
It’s important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support.
| Test Name | SMAD4 Gene Myhre 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 SMAD4 Gene Myhre syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMAD4 Gene Myhre syndrome NGS Genetic DNA Test gene SMAD4 |
| Test Details |
The SMAD4 gene is responsible for encoding a protein that plays a crucial role in cell signaling pathways, particularly those involved in regulating cell growth and differentiation. Mutations in the SMAD4 gene can lead to a condition called Myhre syndrome. Myhre syndrome is a rare genetic disorder characterized by various physical and developmental abnormalities. Some common features of Myhre syndrome include short stature, facial dysmorphism (unusual facial features), muscle stiffness, joint limitations, hearing loss, and heart defects. The severity and specific symptoms can vary among individuals with this condition. Next-generation sequencing (NGS) is a type of genetic testing that allows for the simultaneous analysis of multiple genes, including the SMAD4 gene. NGS can identify specific mutations or variations in the SMAD4 gene that may be associated with Myhre syndrome. NGS genetic testing for Myhre syndrome typically involves obtaining a DNA sample from the individual being tested, which can be done through a blood sample or a cheek swab. The DNA is then sequenced using NGS technology to identify any potential mutations or variations in the SMAD4 gene. Genetic testing for Myhre syndrome can help confirm a diagnosis, guide treatment decisions, and provide information about the risk of passing the condition on to future generations. It can also help with genetic counseling and family planning. It’s important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support. |
