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CHRND Gene Multiple Pterygium Syndrome Lethal Type Genetic Test Cost

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

-21%

The CHRND gene multiple pterygium syndrome lethal type genetic test is a sophisticated diagnostic procedure offered by DNA Labs UAE, aimed at identifying mutations in the CHRND gene associated with the lethal type of multiple pterygium syndrome (LMPS). This rare genetic disorder is characterized by the presence of multiple pterygia (webs of skin) across various parts of the body, joint contractures, fetal growth restriction, and other congenital anomalies, often leading to prenatal or neonatal mortality. The CHRND gene plays a crucial role in the development and function of the neuromuscular junction, and mutations in this gene can disrupt normal muscle function, contributing to the syndrome’s manifestations.

This genetic test involves analyzing the patient’s DNA to detect specific mutations in the CHRND gene that are known to cause the lethal type of multiple pterygium syndrome. It is a critical tool for accurate diagnosis, allowing for appropriate genetic counseling and management of affected families. The test is particularly valuable for prospective parents with a family history of the condition or for cases where fetal abnormalities suggestive of LMPS are detected during pregnancy.

At DNA Labs UAE, the test is priced at 4400 AED, reflecting the specialized nature of the analysis and the expertise required to interpret the results accurately. The cost encompasses the full testing process, from sample collection to detailed reporting. By opting for this test at DNA Labs UAE, patients and their families can expect comprehensive support, from initial consultation through to the delivery of results and beyond, ensuring that they are fully informed and supported throughout the diagnostic journey.

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  • This test is not intended for medical diagnosis or treatment
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CHRND Gene Multiple Pterygium Syndrome Lethal Type Genetic Test

Are you concerned about multiple pterygium syndrome lethal type? Genetic testing can provide valuable information about this condition. DNA Labs UAE offers the CHRND Gene Multiple Pterygium Syndrome Lethal Type Genetic Test at a cost of AED 4400.0.

Test Details

The CHRND gene is associated with multiple pterygium syndrome lethal type, a condition characterized by multiple joint contractures, abnormal facial features, and severe developmental abnormalities. Unfortunately, individuals with this condition typically do not survive beyond infancy.

NGS (Next-Generation Sequencing) technology is used to analyze the CHRND gene for any mutations or variations that may be causing the syndrome. This involves sequencing the entire coding region of the gene to identify any changes that may be present.

Genetic testing for multiple pterygium syndrome lethal type can be helpful in confirming a diagnosis, providing information about the prognosis, and assisting with family planning decisions. However, it is important to note that there is currently no cure for this condition, and treatment focuses on managing the symptoms and providing supportive care.

Test Components and Price

  • Test Name: CHRND Gene Multiple Pterygium Syndrome Lethal Type Genetic Test
  • Components: Blood or Extracted DNA or One drop Blood on FTA Card
  • Price: AED 4400.0

Sample Condition

The sample required for this test can be either blood, extracted DNA, or one drop of blood on an FTA card.

Report Delivery

After the test is conducted, the report will be delivered within 3 to 4 weeks.

Method

The test utilizes NGS technology to analyze the CHRND gene.

Test Type

This test falls under the category of Osteology Dermatology Immunology Disorders.

Doctor and Test Department

The test is conducted by a dermatologist and falls under the Genetics department.

Pre Test Information

Before undergoing the CHRND Gene Multiple Pterygium Syndrome Lethal Type Genetic 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 the syndrome.

Seeking Further Information

If you suspect that you or someone you know may have multiple pterygium syndrome lethal type, it is recommended to consult with a genetic counselor or healthcare professional who can provide further information and guidance regarding genetic testing options.

Test Name CHRND Gene Multiple pterygium syndrome lethal type 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 Osteology Dermatology Immunology Disorders
Doctor Dermatologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for CHRND Gene Multiple pterygium syndrome lethal type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHRND Gene Multiple pterygium syndrome lethal type NGS Genetic DNA Test gene CHRND
Test Details

The CHRND gene is associated with a condition called multiple pterygium syndrome lethal type. This condition is characterized by multiple joint contractures (pterygia), abnormal facial features, and severe developmental abnormalities. It is considered a lethal form of the syndrome because affected individuals typically do not survive beyond infancy.

NGS (Next-Generation Sequencing) genetic testing can be used to analyze the CHRND gene for any mutations or variations that may be causing the multiple pterygium syndrome lethal type. This type of testing involves sequencing the entire coding region of the gene to identify any changes that may be present.

Genetic testing for multiple pterygium syndrome lethal type can be helpful in confirming a diagnosis, providing information about the prognosis, and assisting with family planning decisions. However, it is important to note that there is currently no cure for this condition, and treatment is focused on managing the symptoms and providing supportive care.

If you suspect that you or someone you know may have multiple pterygium syndrome lethal type, it is recommended to consult with a genetic counselor or healthcare professional who can provide further information and guidance regarding genetic testing options.

SKU: TEST-3150 Category:

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