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CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia Genetic Test

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

-21%

The CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, aimed at detecting mutations in the CASK gene. These mutations are known to cause a rare genetic disorder characterized by significant intellectual disability, reduced head size (microcephaly), and underdevelopment (hypoplasia) of specific parts of the brain, notably the pons and cerebellum. The condition, which can affect individuals of any gender, has a profound impact on neurological development and physical growth.

The test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory to identify any abnormalities in the CASK gene. This gene plays a crucial role in brain development and function, and its mutations can lead to the symptoms observed in affected individuals.

Offered at a cost of 4400 AED, this genetic test is crucial for early diagnosis and intervention. Identifying the genetic basis of the condition allows for a better understanding of the disorder, aids in making informed decisions about care and management, and provides valuable information for family planning. DNA Labs UAE, with its state-of-the-art facilities and experienced professionals, ensures accurate and reliable testing, providing essential support to affected families in managing this challenging condition.

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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CASK Gene Mental Retardation and Microcephaly Genetic Test

Test Name: CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia Genetic Test

Test Components: NGS Technology

Price: 4400.0 AED

Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery: 3 to 4 Weeks

Test Type: Neurological Disorders

Doctor: Neurologist

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia

About CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia

The CASK gene is associated with a rare genetic disorder called Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia (MICPCH). This disorder primarily affects brain development, resulting in intellectual disability, small head size (microcephaly), and underdevelopment of the pons (part of the brainstem) and cerebellum.

About NGS Technology

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to examine multiple genes simultaneously. In the case of MICPCH, NGS can be used to analyze the CASK gene for any potential mutations or abnormalities. By identifying mutations in the CASK gene, NGS testing can help confirm a diagnosis of MICPCH. It can also provide information about the specific mutation present, which can aid in understanding the severity and prognosis of the disorder.

NGS testing is a valuable tool in genetic diagnosis as it allows for the analysis of multiple genes simultaneously, providing a more comprehensive view of a patient’s genetic makeup. This can be particularly helpful in cases where the genetic cause is not immediately apparent or when multiple genes may be involved in a particular disorder, such as in MICPCH.

Test Name CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia 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 CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Test Details

The CASK gene is associated with a rare genetic disorder called Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia (MICPCH). This disorder primarily affects brain development, resulting in intellectual disability, small head size (microcephaly), and underdevelopment of the pons (part of the brainstem) and cerebellum.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to examine multiple genes simultaneously. In the case of MICPCH, NGS can be used to analyze the CASK gene for any potential mutations or abnormalities.

By identifying mutations in the CASK gene, NGS testing can help confirm a diagnosis of MICPCH. It can also provide information about the specific mutation present, which can aid in understanding the severity and prognosis of the disorder.

NGS testing is a valuable tool in genetic diagnosis as it allows for the analysis of multiple genes simultaneously, providing a more comprehensive view of a patient’s genetic makeup. This can be particularly helpful in cases where the genetic cause is not immediately apparent or when multiple genes may be involved in a particular disorder, such as in MICPCH.