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SNAP29 Gene Cerebral Dysgenesis Neuropathy Ichthyosis Palmoplantar Keratoderma Syndrome Genetic Test Cost

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

-21%

The SNAP29 Gene Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma (CNSDIP) Syndrome Genetic Test is a specialized diagnostic examination conducted to detect mutations in the SNAP29 gene, which are implicated in the development of CNSDIP syndrome. This rare genetic disorder is characterized by a combination of neurological abnormalities, peripheral nerve problems, skin issues, and distinctive thickening of the skin on the palms of the hands and soles of the feet. Early diagnosis through genetic testing is crucial for managing symptoms and improving the quality of life for affected individuals.

The test, available at DNA Labs UAE, involves analyzing the patient’s DNA to identify mutations in the SNAP29 gene that are responsible for the syndrome. The procedure is conducted with utmost precision and confidentiality, ensuring reliable results for patients and their families.

The cost of the SNAP29 Gene CNSDIP Syndrome Genetic Test is set at 4400 AED. This price reflects the comprehensive nature of the test, covering the expenses associated with the sophisticated technology and expertise required to accurately detect the genetic abnormalities associated with the syndrome. Upon completion, the test provides crucial information that can guide treatment options, support planning for healthcare needs, and offer insight into the genetic risk for other family members.

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SNAP29 Gene Cerebral dysgenesis neuropathy ichthyosis palmoplantar keratoderma syndrome Genetic Test

Test Details

The SNAP29 gene is associated with a rare genetic disorder called Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma (CINP) syndrome. This syndrome is characterized by multiple symptoms including developmental delay, intellectual disability, seizures, peripheral neuropathy, ichthyosis (a skin condition characterized by dry, scaly skin), and palmoplantar keratoderma (thickening of the skin on the palms and soles).

NGS (Next-Generation Sequencing) genetic testing can be used to analyze the DNA sequence of the SNAP29 gene and identify any genetic variations or mutations that may be present. This type of testing can help confirm a diagnosis of CINP syndrome and provide information about the specific genetic variant causing the condition. Genetic testing for CINP syndrome can be beneficial for individuals suspected to have the disorder, as it can help guide clinical management and provide information about the inheritance pattern of the condition. It can also be useful for family members who may be at risk of carrying the same genetic variant.

It is important to consult with a healthcare professional or genetic counselor to determine if NGS genetic testing is appropriate and to understand the potential benefits and limitations of the test.

Test Name: SNAP29 Gene Cerebral dysgenesis neuropathy ichthyosis palmoplantar keratoderma 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 SNAP29 Gene Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SNAP29 Gene Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome NGS Genetic DNA Test gene SNAP29
Test Name SNAP29 Gene Cerebral dysgenesis neuropathy ichthyosis palmoplantar keratoderma 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 SNAP29 Gene Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SNAP29 Gene Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome NGS Genetic DNA Test gene SNAP29
Test Details

The SNAP29 gene is associated with a rare genetic disorder called Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma (CINP) syndrome. This syndrome is characterized by multiple symptoms including developmental delay, intellectual disability, seizures, peripheral neuropathy, ichthyosis (a skin condition characterized by dry, scaly skin), and palmoplantar keratoderma (thickening of the skin on the palms and soles).

NGS (Next-Generation Sequencing) genetic testing can be used to analyze the DNA sequence of the SNAP29 gene and identify any genetic variations or mutations that may be present. This type of testing can help confirm a diagnosis of CINP syndrome and provide information about the specific genetic variant causing the condition.

Genetic testing for CINP syndrome can be beneficial for individuals suspected to have the disorder, as it can help guide clinical management and provide information about the inheritance pattern of the condition. It can also be useful for family members who may be at risk of carrying the same genetic variant.

It is important to consult with a healthcare professional or genetic counselor to determine if NGS genetic testing is appropriate and to understand the potential benefits and limitations of the test.

SKU: TEST-4040 Category:

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