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GNPAT Gene Rhizomelic Chondrodysplasia Punctata Type 2 Genetic Test Cost

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

-21%

The GNPAT Gene Rhizomelic Chondrodysplasia Punctata Type 2 Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify mutations in the GNPAT gene, which are linked to Rhizomelic Chondrodysplasia Punctata Type 2 (RCDP2). RCDP2 is a rare genetic disorder characterized by shortening of the bones in the upper arms and thighs (rhizomelia), distinctive facial features, and severe intellectual disabilities, among other symptoms. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two mutated copies of the GNPAT gene to be affected.

This test is critical for accurate diagnosis, enabling targeted interventions and management strategies to improve the quality of life for affected individuals. The test is conducted through a blood sample or cheek swab, which is then analyzed for specific genetic alterations associated with RCDP2. At a cost of 4400 AED, the GNPAT Gene Test is an invaluable tool for families seeking answers to complex genetic conditions, providing them with the necessary information to understand their genetic health better and make informed decisions about their care.

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  • This test is not intended for medical diagnosis or treatment
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GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 Genetic Test

At DNA Labs UAE, we offer the GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 Genetic Test. This test is designed to analyze the GNPAT gene and identify any mutations or variations associated with rhizomelic chondrodysplasia punctata type 2 (RCDP2), a genetic disorder.

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

Before undergoing the GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected with the GNPAT gene. This information is crucial for accurate testing and genetic counseling.

Test Details

The GNPAT gene is associated with rhizomelic chondrodysplasia punctata type 2 (RCDP2), a genetic disorder characterized by skeletal abnormalities, growth retardation, intellectual disability, and distinctive facial features. Our NGS genetic testing utilizes advanced technology to extract DNA from a blood or saliva sample. The extracted DNA is then sequenced to identify any variations or mutations in the GNPAT gene.

By analyzing the sequencing data, our test can determine if a person has RCDP2 or is a carrier of the condition. This information is crucial for genetic counseling and the management of the condition.

It is important to note that genetic testing should always be done under the guidance of a healthcare professional or genetic counselor. They can provide further information, support, and help interpret the results of the test.

Test Name GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 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 GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 NGS Genetic DNA Test gene GNPAT
Test Details

The GNPAT gene is associated with a genetic disorder called rhizomelic chondrodysplasia punctata type 2 (RCDP2). This disorder is characterized by skeletal abnormalities, growth retardation, intellectual disability, and distinctive facial features.

NGS (Next-Generation Sequencing) genetic testing can be used to analyze the GNPAT gene and identify any mutations or variations that may be present. This type of testing can help diagnose RCDP2 and provide important information for genetic counseling and management of the condition.

During NGS testing, DNA is extracted from a blood or saliva sample and sequenced using advanced technology. The sequencing data is then analyzed to identify any variations or mutations in the GNPAT gene. This can help determine if a person has RCDP2 or is a carrier of the condition.

It is important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor, who can provide further information and support.

SKU: TEST-4334 Category:

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