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PORCN Gene Focal dermal hypoplasia Genetic Test Cost

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

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Focal Dermal Hypoplasia, also known as Goltz syndrome, is a rare genetic disorder that affects the development of various body systems including the skin, skeletal system, eyes, and in some cases, the face and teeth. The PORCN gene plays a crucial role in this condition, as mutations in this gene are responsible for the manifestations of the syndrome. The PORCN gene is vital for the proper development of the ectoderm, the embryonic layer from which the skin, eyes, and certain other tissues are derived.

To diagnose this condition accurately, genetic testing for mutations in the PORCN gene is essential. In the UAE, DNA Labs offers a specialized genetic test designed to detect mutations in the PORCN gene that are associated with Focal Dermal Hypoplasia. This test is crucial for confirming the diagnosis, understanding the risk of passing the condition to offspring, and guiding management and treatment plans.

The test involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory to identify any mutations in the PORCN gene. The cost of the PORCN gene genetic test at DNA Labs UAE is 4400 AED. This investment not only provides a definitive diagnosis but also contributes to a better understanding of the condition, which can be invaluable for affected individuals and their families in managing the syndrome and making informed decisions about their health and future.

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PORCN Gene Focal Dermal Hypoplasia Genetic Test

At DNA Labs UAE, we offer the PORCN Gene Focal Dermal Hypoplasia Genetic Test at a cost of AED 4400.0. This test is used to diagnose focal dermal hypoplasia (FDH), also known as Goltz syndrome, which is a rare genetic disorder.

Test Details

The PORCN gene is responsible for producing a protein that plays a crucial role in embryonic development and tissue formation. Mutations in this gene can lead to FDH, which is characterized by abnormalities in the skin, skeletal system, eyes, and other organs.

Individuals with FDH may exhibit skin abnormalities such as atrophic or thin skin, hypo- or hyperpigmentation, and the presence of soft, fatty nodules. Skeletal abnormalities can include malformations of the fingers, toes, limbs, and spine. Other features may include dental anomalies, eye abnormalities, and developmental delays.

The PORCN Gene Focal Dermal Hypoplasia Genetic Test utilizes Next-Generation Sequencing (NGS) technology to analyze multiple genes simultaneously. This allows for a comprehensive analysis of the PORCN gene, enabling a more accurate diagnosis of FDH.

Pre Test Information

Before undergoing the PORCN Gene Focal Dermal Hypoplasia 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 FDH and the gene PORCN.

Test Components and Method

  • Test Name: PORCN Gene Focal Dermal Hypoplasia Genetic Test
  • Components: Blood or Extracted DNA or One drop Blood on FTA Card
  • Price: AED 4400.0
  • Report Delivery: 3 to 4 Weeks
  • Method: NGS Technology
  • Test Type: Osteology Dermatology Immunology Disorders
  • Doctor: Dermatologist
  • Test Department: Genetics

Benefits of Genetic Testing for FDH

Genetic testing for FDH can provide several benefits:

  • Confirmation of diagnosis
  • Identification of specific genetic mutation involved
  • Information for family planning and genetic counseling
  • Aid in the management and treatment of the disorder

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 appropriate counseling and support throughout the testing process.

Test Name PORCN Gene Focal dermal hypoplasia 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 PORCN Gene Focal dermal hypoplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PORCN Gene Focal dermal hypoplasia NGS Genetic DNA Test gene PORCN
Test Details

The PORCN gene is responsible for producing a protein that plays a crucial role in embryonic development and tissue formation. Mutations in this gene can lead to a rare genetic disorder called focal dermal hypoplasia (FDH), also known as Goltz syndrome.

FDH is characterized by abnormalities in the skin, skeletal system, eyes, and other organs. Individuals with FDH may have skin abnormalities such as atrophic or thin skin, hypo- or hyperpigmentation, and the presence of soft, fatty nodules. Skeletal abnormalities can include malformations of the fingers, toes, limbs, and spine. Other features may include dental anomalies, eye abnormalities, and developmental delays.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that allows for the analysis of multiple genes simultaneously. It is commonly used to identify mutations or variations in genes associated with various genetic disorders, including FDH. NGS can provide a comprehensive analysis of the PORCN gene, allowing for a more accurate diagnosis of FDH.

Genetic testing for FDH can be beneficial for individuals suspected of having the condition, as it can confirm the diagnosis, provide information about the specific genetic mutation involved, and help with family planning and genetic counseling. It can also aid in the management and treatment of the disorder.

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

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