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SPATA5 Gene Epilepsy hearing loss and mental retardation syndrome Genetic Test

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

-21%

The SPATA5 gene epilepsy-hearing loss and mental retardation syndrome genetic test is a specialized diagnostic examination aimed at detecting mutations in the SPATA5 gene, which are associated with a rare, genetic disorder. This condition is characterized by a complex spectrum of symptoms, including epilepsy, hearing loss, and varying degrees of intellectual disability. The test involves analyzing the patient’s DNA to identify any genetic variations that may indicate the presence of the syndrome, facilitating early diagnosis and intervention.

Performed at DNA Labs UAE, a leading facility in genetic testing, this test is designed for individuals who exhibit symptoms related to the syndrome or have a family history of genetic disorders. The cost of the test is set at 4400 AED, reflecting the comprehensive analysis and expertise required to accurately identify the SPATA5 gene mutations. Early detection through this genetic test can be crucial in managing symptoms, tailoring treatments, and improving the quality of life for those affected by this syndrome.

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SPATA5 Gene Epilepsy Hearing Loss and Mental Retardation Syndrome Genetic Test

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 SPATA5 Gene Epilepsy, hearing loss, and mental retardation syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SPATA5 Gene Epilepsy, hearing loss, and mental retardation syndrome.

Test Details

SPATA5 gene epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) is a rare genetic disorder that affects the nervous system and causes developmental delays, intellectual disability, seizures, and hearing loss. EHLMRS is caused by mutations in the SPATA5 gene, which provides instructions for making a protein that is involved in the formation and maintenance of nerve cells.

NGS genetic testing can be used to identify mutations in the SPATA5 gene that cause EHLMRS. This type of testing uses advanced sequencing technology to analyze a patient’s DNA and identify specific genetic changes that may be responsible for their symptoms.

NGS testing for EHLMRS can help healthcare providers make an accurate diagnosis and provide appropriate treatment and support for patients and their families. It can also help identify carriers of the genetic mutation, allowing for genetic counseling and family planning.

Test Name SPATA5 Gene Epilepsy hearing loss and mental retardation syndrome 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 SPATA5 Gene Epilepsy, hearing loss, and mental retardation syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SPATA5 Gene Epilepsy, hearing loss, and mental retardation syndrome
Test Details

SPATA5 gene epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) is a rare genetic disorder that affects the nervous system and causes developmental delays, intellectual disability, seizures, and hearing loss. EHLMRS is caused by mutations in the SPATA5 gene, which provides instructions for making a protein that is involved in the formation and maintenance of nerve cells.

NGS genetic testing can be used to identify mutations in the SPATA5 gene that cause EHLMRS. This type of testing uses advanced sequencing technology to analyze a patient’s DNA and identify specific genetic changes that may be responsible for their symptoms.

NGS testing for EHLMRS can help healthcare providers make an accurate diagnosis and provide appropriate treatment and support for patients and their families. It can also help identify carriers of the genetic mutation, allowing for genetic counseling and family planning.