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CHRNA1 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 CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type Genetic Test is a specialized diagnostic procedure available at DNA Labs UAE, aimed at identifying mutations in the CHRNA1 gene, which are associated with the lethal type of Multiple Pterygium Syndrome (LMPS). This rare genetic disorder is characterized by multiple pterygia (webs of skin) across various parts of the body, joint anomalies, facial dysmorphisms, and severe prenatal growth deficiency, often leading to neonatal fatality.

This genetic test is crucial for early and accurate diagnosis, enabling appropriate genetic counseling and management strategies for affected families. The test involves analyzing the patient’s DNA to detect mutations in the CHRNA1 gene, which plays a significant role in neuromuscular signaling. Identifying these mutations helps confirm the diagnosis of LMPS lethal type, differentiating it from other forms of the syndrome and related neuromuscular disorders.

The cost of the CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis and detailed reporting necessary for a conclusive diagnosis. The test is conducted in a state-of-the-art facility, ensuring high accuracy and reliability of the results, which are critical for the affected individuals and their families in managing this severe condition.

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CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type Genetic Test

Introduction

The CHRNA1 gene is associated with Multiple Pterygium Syndrome Lethal Type (MPSLT), a rare genetic disorder characterized by multiple joint contractures (pterygia), facial anomalies, and severe muscle weakness.

Test Details

The CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type Genetic Test is a Next-Generation Sequencing (NGS) genetic testing method used to analyze the DNA sequence of the CHRNA1 gene. This test can identify mutations or variations in the gene that may be responsible for causing MPSLT.

Components

  • Test Name: CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type 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: Osteology Dermatology Immunology Disorders
  • Doctor: Dermatologist
  • Test Department: Genetics

Pre Test Information

Before undergoing the CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type NGS Genetic DNA Test, it is important to provide the clinical history of the patient. A Genetic Counselling session may be conducted to draw a pedigree chart of family members affected with CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type NGS Genetic DNA Test gene CHRNA1.

Test Process

The NGS genetic test for the CHRNA1 gene involves collecting a DNA sample from the individual being tested, usually through a blood sample or cheek swab. The collected DNA is then sequenced using NGS technology, allowing for the rapid and efficient analysis of the entire gene sequence.

Test Results

The results of the NGS genetic test can help confirm a diagnosis of MPSLT and provide information about the specific genetic mutation or variation present in the CHRNA1 gene. This information can be useful for genetic counseling, family planning, and potentially guiding treatment decisions.

Important Note

It is crucial to perform and interpret genetic testing for MPSLT and other genetic disorders under the guidance of a qualified healthcare professional or genetic counselor. They can provide detailed information about the benefits, limitations, and potential risks associated with genetic testing, as well as help interpret the results and provide appropriate guidance and support.

Test Name CHRNA1 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 CHRNA1 Gene Multiple pterygium syndrome lethal type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHRNA1 Gene Multiple pterygium syndrome lethal type NGS Genetic DNA Test gene CHRNA1
Test Details

The CHRNA1 gene is associated with Multiple Pterygium Syndrome Lethal Type (MPSLT), a rare genetic disorder characterized by multiple joint contractures (pterygia), facial anomalies, and severe muscle weakness.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of the CHRNA1 gene. This type of testing can identify mutations or variations in the gene that may be responsible for causing MPSLT.

The NGS genetic test for the CHRNA1 gene involves collecting a DNA sample from the individual being tested, usually through a blood sample or cheek swab. The DNA is then sequenced using NGS technology, which allows for the rapid and efficient analysis of the entire gene sequence.

The results of the NGS genetic test can help confirm a diagnosis of MPSLT and provide information about the specific genetic mutation or variation present in the CHRNA1 gene. This information can be useful for genetic counseling, family planning, and potentially guiding treatment decisions.

It is important to note that genetic testing for MPSLT and other genetic disorders should be performed and interpreted by a qualified healthcare professional or genetic counselor. They can provide detailed information about the benefits, limitations, and potential risks associated with genetic testing, as well as help interpret the results and provide appropriate guidance and support.

SKU: TEST-3149 Category:

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