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GPHN Gene Molybdenum Cofactor Deficiency Type C Genetic Test Cost

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

-21%

The GPHN Gene Molybdenum Cofactor Deficiency Type C Genetic Test is a specialized diagnostic tool designed to identify mutations in the GPHN gene, which are responsible for Molybdenum Cofactor Deficiency (MoCD) Type C. MoCD is a rare, autosomal recessive metabolic disorder that affects the body’s ability to process certain chemicals, leading to a buildup of toxic substances that can cause severe neurological damage and other symptoms. Early detection through genetic testing can be crucial for managing the condition and potentially mitigating its effects.

This test is conducted by DNA Labs UAE, a reputable facility known for its advanced genetic testing services. The process involves analyzing the patient’s DNA sample, typically obtained through a blood draw or cheek swab, to look for specific mutations in the GPHN gene that are indicative of MoCD Type C. The results of this test can provide valuable information for families and healthcare providers, aiding in the diagnosis, treatment planning, and understanding of the condition’s inheritance pattern.

The cost of the GPHN Gene Molybdenum Cofactor Deficiency Type C Genetic Test at DNA Labs UAE is 4400 AED. This price reflects the sophisticated technology and expertise required to accurately identify mutations in the GPHN gene. While the cost may be a consideration for some families, the potential benefits of obtaining a definitive diagnosis and the guidance it can offer for managing the condition make it a valuable investment in the affected individual’s health and well-being.

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GPHN Gene Molybdenum Cofactor Deficiency Type C Genetic Test

At DNA Labs UAE, we offer the GPHN Gene Molybdenum Cofactor Deficiency Type C Genetic Test. This test is used to detect mutations in the GPHN gene, which is responsible for producing a protein called gephyrin. Gephyrin plays a crucial role in the development and functioning of the central nervous system.

Test Components

  • Price: 4400.0 AED

Sample Condition

This test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.

Report Delivery

The report will be delivered within 3 to 4 weeks.

Method

This test uses NGS (Next-Generation Sequencing) technology to analyze multiple genes simultaneously and identify any mutations or variations that may be present.

Test Type

This test falls under the category of metabolic disorders.

Doctor

The test can be ordered by a general physician.

Test Department

This test is conducted by our Genetics department.

Pre Test Information

Prior to the test, it is important to provide the clinical history of the patient who is going for the GPHN Gene Molybdenum Cofactor Deficiency Type C NGS Genetic DNA Test. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected by Molybdenum Cofactor Deficiency Type C.

Test Details

Molybdenum Cofactor Deficiency Type C (MoCD type C) is a rare autosomal recessive genetic disorder caused by mutations in the GPHN gene. This gene is responsible for producing the gephyrin protein, which is essential for the proper functioning of the central nervous system.

MoCD type C affects the body’s ability to produce and utilize molybdenum cofactor, a compound necessary for the proper functioning of several enzymes. This deficiency leads to severe neurological symptoms, including seizures, developmental delays, and intellectual disability.

NGS genetic testing is a method used to analyze multiple genes simultaneously and identify any mutations or variations that may be present. In the case of MoCD type C, NGS genetic testing can be used to detect mutations in the GPHN gene, helping to confirm a diagnosis and provide valuable information for genetic counseling and treatment planning.

It is important to note that genetic testing for MoCD type C should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support.

Test Name GPHN Gene Molybdenum cofactor deficiency type C 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 Metabolic Disorders
Doctor General Physician
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for GPHN Gene Molybdenum cofactor deficiency type C NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Molybdenum cofactor deficiency type C
Test Details

The GPHN gene is responsible for producing a protein called gephyrin, which plays a crucial role in the development and functioning of the central nervous system. Mutations in the GPHN gene can lead to a rare genetic disorder known as molybdenum cofactor deficiency type C (MoCD type C).

MoCD type C is an autosomal recessive disorder that affects the body’s ability to produce and utilize molybdenum cofactor, an essential compound required for the proper functioning of several enzymes. This deficiency leads to severe neurological symptoms, including seizures, developmental delays, and intellectual disability.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify any mutations or variations that may be present. In the case of MoCD type C, NGS genetic testing can be used to detect mutations in the GPHN gene, helping to confirm a diagnosis and provide valuable information for genetic counseling and treatment planning.

It’s important to note that genetic testing for MoCD type C should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support.

SKU: TEST-2555 Category:

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