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PEX5 Gene Rhizomelic Chondrodysplasia Punctata Type 5 Genetic Test Cost

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

-21%

The PEX5 Gene Rhizomelic Chondrodysplasia Punctata Type 5 Genetic Test is a specialized diagnostic assessment available at DNA Labs UAE, designed to identify mutations in the PEX5 gene, which are linked to Rhizomelic Chondrodysplasia Punctata Type 5 (RCDP5). RCDP5 is a rare genetic disorder characterized by skeletal abnormalities, shortening of the proximal limbs (rhizomelia), distinctive facial features, and intellectual disability, among other symptoms. The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

The test involves analyzing the patient’s DNA, extracted from a blood sample, to detect mutations in the PEX5 gene that are responsible for the disorder. This genetic test is crucial for accurate diagnosis, allowing for appropriate management and treatment plans tailored to the patient’s specific needs. Additionally, it can provide valuable information for family planning and genetic counseling for families affected by RCDP5.

At DNA Labs UAE, the PEX5 Gene Rhizomelic Chondrodysplasia Punctata Type 5 Genetic Test is offered at a cost of 4400 AED. The price reflects the sophisticated technology and expertise required to accurately identify mutations in the PEX5 gene and interpret the results in the context of the patient’s health and family history.

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  • This test is not intended for medical diagnosis or treatment
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PEX5 Gene Rhizomelic chondrodysplasia punctata type 5 Genetic Test

At DNA Labs UAE, we offer the PEX5 Gene Rhizomelic chondrodysplasia punctata type 5 Genetic Test. This test is designed to detect mutations or alterations in the PEX5 gene, which is associated with a rare genetic disorder called rhizomelic chondrodysplasia punctata type 5 (RCDP5).

Test Details

RCDP5 is a genetic disorder characterized by skeletal abnormalities, intellectual disability, and developmental delays. Our PEX5 Gene Rhizomelic chondrodysplasia punctata type 5 Genetic Test utilizes NGS (Next-Generation Sequencing) technology, which allows for the analysis of multiple genes simultaneously.

Components and Price

The price for the PEX5 Gene Rhizomelic chondrodysplasia punctata type 5 Genetic Test is 4400.0 AED. The test can be performed on blood samples, extracted DNA, or even one drop of blood on an FTA card.

Report Delivery

After the sample is collected, the report will be delivered within 3 to 4 weeks. This timeframe allows for accurate analysis and interpretation of the genetic data.

Test Type and Doctor

The PEX5 Gene Rhizomelic chondrodysplasia punctata type 5 Genetic Test falls under the category of dysmorphology and is typically requested by pediatricians. Our test is conducted in the Genetics department by highly trained professionals.

Pre Test Information

Before undergoing the PEX5 Gene Rhizomelic chondrodysplasia punctata type 5 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 condition. This information helps in the accurate interpretation of the test results.

Importance of NGS Genetic Testing

NGS genetic testing is a highly advanced and efficient method that can detect various genetic mutations and alterations in a person’s DNA. In the case of RCDP5, NGS genetic testing can identify mutations or alterations in the PEX5 gene, confirming a diagnosis in suspected individuals. It can also be used for carrier testing in individuals with a family history of RCDP5. This test provides valuable information for healthcare professionals and individuals, allowing for accurate diagnosis, appropriate management, and genetic counseling.

It is important to consult with a healthcare professional or genetic counselor for a comprehensive understanding of the test and its implications.

Test Name PEX5 Gene Rhizomelic chondrodysplasia punctata type 5 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 PEX5 Gene Rhizomelic chondrodysplasia punctata type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PEX5 Gene Rhizomelic chondrodysplasia punctata type 5 NGS Genetic DNA Test gene PEX5
Test Details

The PEX5 gene is associated with a condition called rhizomelic chondrodysplasia punctata type 5 (RCDP5). RCDP5 is a rare genetic disorder characterized by skeletal abnormalities, intellectual disability, and other developmental delays.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the analysis of multiple genes simultaneously. It is a highly advanced and efficient method that can detect various genetic mutations and alterations in a person’s DNA.

In the context of RCDP5, NGS genetic testing can be used to identify mutations or alterations in the PEX5 gene. This can help confirm a diagnosis of RCDP5 in individuals suspected of having the condition. It can also be used for carrier testing in individuals with a family history of RCDP5.

NGS genetic testing can provide valuable information for healthcare professionals and individuals, allowing for accurate diagnosis, appropriate management, and genetic counseling. However, it is important to consult with a healthcare professional or genetic counselor for a comprehensive understanding of the test and its implications.

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