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YWHAE Gene Miller Dieker Lissencephaly Syndrome Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

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The YWHAE Gene Miller-Dieker Lissencephaly Syndrome Genetic Test is a specialized diagnostic tool designed to identify mutations in the YWHAE gene, which are associated with Miller-Dieker Lissencephaly Syndrome (MDLS). MDLS is a rare genetic disorder characterized by brain malformations, specifically the smoothness of the cerebral cortex known as lissencephaly, which leads to severe intellectual disability, developmental delay, muscle spasticity, and epilepsy. The YWHAE gene plays a crucial role in brain development, and mutations in this gene can disrupt normal neural patterning, leading to the symptoms observed in MDLS.

This genetic test is essential for confirming the diagnosis of MDLS, enabling early intervention, and providing families with valuable information regarding the prognosis and potential management strategies for affected individuals. It involves analyzing the patient’s DNA, extracted from a blood sample, to detect mutations in the YWHAE gene that are indicative of the syndrome.

The test is available at DNA Labs UAE, a leading facility in genetic diagnostics, offering a wide range of genetic testing services with state-of-the-art technology. The cost of the YWHAE Gene Miller-Dieker Lissencephaly Syndrome Genetic Test at DNA Labs UAE is 4400 AED. Given the complexity of the test and the specialized technology required, this cost reflects the comprehensive analysis and the detailed, reliable results provided by the lab, which are crucial for affected families seeking answers and support for managing this challenging condition.

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YWHAE Gene Miller Dieker lissencephaly syndrome Genetic Test

At DNA Labs UAE, we offer the YWHAE Gene Miller Dieker lissencephaly syndrome Genetic Test to help diagnose and provide information about this rare genetic disorder. This test analyzes the YWHAE gene for mutations associated with Miller Dieker lissencephaly syndrome.

Test Details

The YWHAE gene Miller Dieker lissencephaly syndrome NGS genetic test is a comprehensive genetic test that involves sequencing the DNA of the YWHAE gene. This test helps confirm the diagnosis of Miller Dieker lissencephaly syndrome and provides information about the specific genetic variant causing the condition.

Miller Dieker lissencephaly syndrome is a rare genetic disorder characterized by a smooth brain surface (lissencephaly), severe developmental delays, intellectual disability, and other neurological abnormalities. The YWHAE gene, located on chromosome 17, provides instructions for producing a protein called 14-3-3. Mutations in this gene disrupt the normal function of the protein, leading to the development of Miller Dieker lissencephaly syndrome.

The NGS (Next-Generation Sequencing) technology used in this test allows for the analysis of multiple genes simultaneously, providing a more comprehensive and efficient approach to genetic testing. It can detect both small and large genetic changes, including point mutations, insertions, deletions, and duplications.

Test Components

  • Test Name: YWHAE Gene Miller Dieker lissencephaly 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

Prior to undergoing the YWHAE Gene Miller Dieker lissencephaly syndrome NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by YWHAE Gene Miller Dieker lissencephaly syndrome.

Conclusion

The YWHAE Gene Miller Dieker lissencephaly syndrome Genetic Test offered by DNA Labs UAE is a valuable tool in diagnosing and managing this rare genetic disorder. With its NGS technology and comprehensive analysis, this test provides important information for genetic counseling, family planning, and the overall management of Miller Dieker lissencephaly syndrome.

Test Name YWHAE Gene Miller Dieker lissencephaly 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 YWHAE Gene Miller Dieker lissencephaly syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with YWHAE Gene Miller Dieker lissencephaly syndrome NGS Genetic DNA Test gene YWHAE
Test Details

YWHAE gene Miller Dieker lissencephaly syndrome NGS genetic test is a genetic test that analyzes the YWHAE gene for mutations associated with Miller Dieker lissencephaly syndrome. Miller Dieker lissencephaly syndrome is a rare genetic disorder characterized by a smooth brain surface (lissencephaly), severe developmental delays, intellectual disability, and other neurological abnormalities.

The NGS (Next-Generation Sequencing) test involves sequencing the DNA of the YWHAE gene to identify any mutations or variations that may be present. This test helps in confirming the diagnosis of Miller Dieker lissencephaly syndrome and can also provide information about the specific genetic variant causing the condition.

NGS technology allows for the analysis of multiple genes simultaneously, providing a more comprehensive and efficient approach to genetic testing. It can detect both small and large genetic changes, including point mutations, insertions, deletions, and duplications.

The YWHAE gene is located on chromosome 17 and provides instructions for producing a protein called 14-3-3. Mutations in this gene disrupt the normal function of the protein, leading to the development of Miller Dieker lissencephaly syndrome.

The NGS genetic test for YWHAE gene Miller Dieker lissencephaly syndrome can be performed on a blood or saliva sample. The test results can help in genetic counseling, family planning, and management of the condition.

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