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SEPSECS Gene Pontocerebellar Hypoplasia Type 2D Genetic Test

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

-21%

The SEPSECS gene pontocerebellar hypoplasia type 2D genetic test is a specialized diagnostic procedure aimed at identifying mutations in the SEPSECS gene, which are associated with pontocerebellar hypoplasia type 2D (PCH2D). PCH2D is a rare genetic disorder characterized by the underdevelopment of the cerebellum and pons, two critical regions of the brain involved in controlling movement and coordination. This condition often presents significant developmental challenges and neurological symptoms from infancy.

DNA Labs UAE offers this genetic test as a crucial tool for healthcare providers and families seeking answers about this specific form of pontocerebellar hypoplasia. By analyzing an individual’s DNA, the test can confirm a diagnosis of PCH2D, thus enabling appropriate care and management strategies to be implemented. The test is priced at 4400 AED, reflecting the sophisticated technology and expertise required to accurately identify mutations in the SEPSECS gene.

Undergoing this test at DNA Labs UAE ensures access to state-of-the-art genetic testing services, provided by a team of experts in the field of genetic diagnostics. The results from this test can be pivotal for families in understanding the condition, planning for the future, and connecting with support and resources tailored to their needs.

Home  Sample collection service available

  • 100% accuaret Test Results
  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
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SEPSECS Gene Pontocerebellar hypoplasia type 2D 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

Neurological Disorders

Doctor

Neurologist

Test Department

Genetics

Pre Test Information

Clinical History of Patient who is going for SEPSECS Gene Pontocerebellar hypoplasia type 2D NGS Genetic DNA Test

A Genetic Counselling session to draw a pedigree chart of family members affected with SEPSECS Gene Pontocerebellar hypoplasia type 2D

Test Details

Pontocerebellar hypoplasia type 2D (PCH2D) is a rare genetic disorder characterized by underdevelopment (hypoplasia) of the pons and cerebellum, which are regions of the brain involved in movement, coordination, and balance. PCH2D is caused by mutations in the SEPSECS gene.

NGS (Next-Generation Sequencing) genetic testing is a technique used to identify genetic mutations or variations in an individual’s DNA. It allows for the simultaneous analysis of multiple genes, making it useful for diagnosing genetic disorders like PCH2D. NGS testing can provide detailed information about the specific genetic mutation in the SEPSECS gene that is causing the condition.

The SEPSECS gene provides instructions for producing a protein called SepSecS, which is involved in the production of selenocysteine, a rare amino acid that is essential for the function of certain enzymes. Mutations in the SEPSECS gene disrupt the production or function of SepSecS, leading to the signs and symptoms of PCH2D.

NGS genetic testing for PCH2D involves sequencing the entire SEPSECS gene to identify any genetic mutations or variations. This can help confirm a diagnosis of PCH2D and provide information about the specific mutation involved. It can also be used for carrier testing in individuals with a family history of PCH2D or for prenatal testing in families at risk of having a child with the condition.

Overall, NGS genetic testing for PCH2D can provide valuable information for diagnosis, genetic counseling, and management of individuals and families affected by this rare genetic disorder.

Test Name SEPSECS Gene Pontocerebellar hypoplasia type 2D Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for SEPSECS Gene Pontocerebellar hypoplasia type 2D NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SEPSECS Gene Pontocerebellar hypoplasia type 2D
Test Details

Pontocerebellar hypoplasia type 2D (PCH2D) is a rare genetic disorder characterized by underdevelopment (hypoplasia) of the pons and cerebellum, which are regions of the brain involved in movement, coordination, and balance. PCH2D is caused by mutations in the SEPSECS gene.

NGS (Next-Generation Sequencing) genetic testing is a technique used to identify genetic mutations or variations in an individual’s DNA. It allows for the simultaneous analysis of multiple genes, making it useful for diagnosing genetic disorders like PCH2D. NGS testing can provide detailed information about the specific genetic mutation in the SEPSECS gene that is causing the condition.

The SEPSECS gene provides instructions for producing a protein called SepSecS, which is involved in the production of selenocysteine, a rare amino acid that is essential for the function of certain enzymes. Mutations in the SEPSECS gene disrupt the production or function of SepSecS, leading to the signs and symptoms of PCH2D.

NGS genetic testing for PCH2D involves sequencing the entire SEPSECS gene to identify any genetic mutations or variations. This can help confirm a diagnosis of PCH2D and provide information about the specific mutation involved. It can also be used for carrier testing in individuals with a family history of PCH2D or for prenatal testing in families at risk of having a child with the condition.

Overall, NGS genetic testing for PCH2D can provide valuable information for diagnosis, genetic counseling, and management of individuals and families affected by this rare genetic disorder.

SKU: TEST-1926 Category:

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