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Chr. 22q13.3 Gene Phelan-McDermid Syndrome Genetic Test

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

-21%

The Chr. 22q13.3 Gene Phelan-McDermid Syndrome Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE, designed to identify mutations in the chromosome 22q13.3 region, which are associated with Phelan-McDermid Syndrome (PMS). This condition, also known as 22q13.3 deletion syndrome, is a rare genetic disorder characterized by intellectual disability, delayed speech development, and autism spectrum disorders, among other symptoms. The test aims to provide conclusive genetic evidence for the diagnosis of PMS, facilitating early intervention and personalized management strategies for affected individuals.

Priced at 4400 AED, the test is conducted through advanced genetic sequencing techniques to detect the presence of deletions or mutations in the specified chromosome region. The process involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the state-of-the-art facilities of DNA Labs UAE. Results from this test can offer crucial information for families, enabling access to support services and informing decisions about care and treatment options. Given the complexity and rarity of Phelan-McDermid Syndrome, this genetic test represents a critical step in understanding and managing the condition.

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chr. 22q13.3 Gene Phelan-McDermid syndrome Genetic Test

DNA Labs UAE offers the chr. 22q13.3 Gene Phelan-McDermid syndrome Genetic Test at a cost of AED 4400.0. This test is used to diagnose Phelan-McDermid syndrome, a genetic disorder associated with the 22q13.3 gene, also known as the SHANK3 gene.

Test Components

  • Price: AED 4400.0
  • 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

Prior to the chr. 22q13.3 Gene Phelan-McDermid syndrome NGS Genetic DNA Test, a clinical history of the patient is required. Additionally, a genetic counseling session is conducted to draw a pedigree chart of family members affected with the syndrome.

Test Details

The 22q13.3 gene, also known as the SHANK3 gene, is associated with Phelan-McDermid syndrome. This genetic disorder is characterized by developmental delays, intellectual disability, speech and language impairments, and autism spectrum disorder.

NGS (Next-Generation Sequencing) genetic testing is used to analyze multiple genes simultaneously. It can detect small changes or mutations in the DNA sequence that may cause Phelan-McDermid syndrome. This test specifically analyzes the SHANK3 gene to identify any mutations or variations present.

NGS genetic testing not only confirms a diagnosis of Phelan-McDermid syndrome but also provides information about the specific genetic changes contributing to the disorder. It can help in identifying potential treatment options, providing prognosis information, and guiding genetic counseling by assessing the likelihood of passing the syndrome to future generations.

Test Name chr. 22q13.3 Gene Phelan-McDermid syndrome 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 chr. 22q13.3 Gene Phelan-McDermid syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with chr. 22q13.3 Gene Phelan-McDermid syndrome NGS Genetic DNA Test gene chr. 22q13.3
Test Details

The 22q13.3 gene, also known as the SHANK3 gene, is associated with a genetic disorder called Phelan-McDermid syndrome. This syndrome is characterized by developmental delays, intellectual disability, speech and language impairments, and autism spectrum disorder.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. It allows for the detection of genetic variations, including small changes or mutations in the DNA sequence, that may be responsible for causing a particular disorder.

In the context of Phelan-McDermid syndrome, NGS genetic testing can be used to analyze the SHANK3 gene and identify any mutations or variations that may be present. This can help in confirming a diagnosis of Phelan-McDermid syndrome and providing information about the specific genetic changes that are contributing to the disorder.

NGS genetic testing can also be useful in identifying potential treatment options or providing information about the prognosis of the syndrome. Additionally, it can help in genetic counseling by providing information about the likelihood of passing the syndrome on to future generations.

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