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OPHN1 Gene Mental Retardation X-Linked With Cerebellar Hypoplasia and Distinctive Facial Appearance Genetic Test

4,400 د.إ

-21%

The “OPHN1 Gene Mental Retardation X-Linked With Cerebellar Hypoplasia and Distinctive Facial Appearance Genetic Test” is a specialized diagnostic assessment available at DNA Labs UAE, designed to identify mutations in the OPHN1 gene. These mutations are associated with a rare genetic disorder that primarily affects males, leading to intellectual disability, underdevelopment of the cerebellum (a part of the brain that coordinates movement), and a unique facial appearance. The condition is X-linked, meaning it is related to the X chromosome, and thus predominantly impacts males while females can be carriers with no or mild symptoms.

This comprehensive genetic test, priced at 4400 AED, is crucial for early diagnosis and management of the condition. It involves analyzing the patient’s DNA to detect abnormalities in the OPHN1 gene, which can help in understanding the severity of the disorder, planning appropriate therapies, and offering genetic counseling to families. DNA Labs UAE employs advanced genetic testing techniques to ensure accurate and reliable results, aiding in the better management of the symptoms associated with this condition and enhancing the quality of life for affected individuals and their families.

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OPHN1 Gene Mental Retardation X-Linked with Cerebellar Hypoplasia and Distinctive Facial Appearance Genetic Test

At DNA Labs UAE, we offer the OPHN1 Gene Mental Retardation X-Linked with Cerebellar Hypoplasia and Distinctive Facial Appearance Genetic Test. This test is designed to diagnose a rare genetic disorder characterized by intellectual disability, delayed development, cerebellar hypoplasia, and distinctive facial features.

Test Components and Price

The OPHN1 Gene Mental Retardation X-Linked with Cerebellar Hypoplasia and Distinctive Facial Appearance Genetic Test is priced at 4400.0 AED. The test requires a blood or extracted DNA sample, or one drop of blood on an FTA card.

Report Delivery

The test results will be delivered within 3 to 4 weeks.

Method

The OPHN1 Gene Mental Retardation X-Linked with Cerebellar Hypoplasia and Distinctive Facial Appearance Genetic Test utilizes Next-Generation Sequencing (NGS) technology.

Test Type

This test is specifically designed for diagnosing neurological disorders.

Doctor and Test Department

The test is conducted under the supervision of a neurologist and falls under the Genetics department.

Pre-Test Information

Prior to undergoing the OPHN1 Gene Mental Retardation X-Linked with Cerebellar Hypoplasia and Distinctive Facial Appearance Genetic Test, it is recommended to provide the clinical history of the patient. Additionally, a genetic counseling session is conducted to draw a pedigree chart of family members affected by the disorder.

Test Details

The OPHN1 gene, also known as oligophrenin-1 gene, is associated with the rare genetic disorder “Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance” (OMIM #300486). This disorder is characterized by intellectual disability, delayed development, cerebellar hypoplasia, and distinctive facial features.

Next-Generation Sequencing (NGS) genetic testing is utilized to identify mutations or variants in the OPHN1 gene. NGS is a high-throughput sequencing method that allows for the simultaneous analysis of multiple genes, making it a valuable tool for diagnosing genetic disorders.

NGS genetic testing for OPHN1 gene mutations can help confirm a diagnosis of Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance. It can also provide information about the specific genetic variant present, which can be useful for genetic counseling and family planning.

It is important to consult with a healthcare professional or genetic counselor to discuss the benefits, limitations, and implications of genetic testing before proceeding. They can provide guidance on the appropriateness of NGS testing, help interpret the results, and assist in making informed decisions based on the test findings.

Test Name OPHN1 Gene Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance 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 OPHN1 Gene Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with OPHN1 Gene Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Test Details

OPHN1 gene, also known as oligophrenin-1 gene, is associated with a rare genetic disorder called “Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance” (OMIM #300486). This disorder is characterized by intellectual disability, delayed development, cerebellar hypoplasia (underdevelopment of the cerebellum), and distinctive facial features.

Next-generation sequencing (NGS) genetic testing can be used to identify mutations or variants in the OPHN1 gene. NGS is a high-throughput sequencing method that allows for the simultaneous analysis of multiple genes, making it a valuable tool for diagnosing genetic disorders.

NGS genetic testing for OPHN1 gene mutations can help confirm a diagnosis of mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance. It can also provide information about the specific genetic variant present, which can be useful for genetic counseling and family planning.

It is important to consult with a healthcare professional or a genetic counselor to discuss the benefits, limitations, and implications of genetic testing before proceeding. They can provide guidance on the appropriateness of NGS testing, help interpret the results, and assist in making informed decisions based on the test findings.