Short Description

NGS genetic DNA test detecets for variant and mutation detection in GPHN gene for Molybdenum cofactor deficiency type C

PreTest 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

Detail Description

GPHN Gene Molybdenum Cofactor Deficiency Type C NGS Genetic DNA Test: Cost, Symptoms, and Diagnosis

DNA Labs India is a leading provider of genetic testing services in India. One of the tests they offer is the GPHN Gene Molybdenum Cofactor Deficiency Type C NGS Genetic DNA Test. In this blog, we'll discuss the cost of the test, symptoms of molybdenum cofactor deficiency type C, and how the test is diagnosed.

Cost of GPHN Gene Molybdenum Cofactor Deficiency Type C NGS Genetic DNA Test

The cost of the GPHN Gene Molybdenum Cofactor Deficiency Type C NGS Genetic DNA Test at DNA Labs India is INR 20,000. This test is designed to identify mutations in the GPHN gene that can cause molybdenum cofactor deficiency type C. This condition is rare, and the test is not commonly ordered. However, it can be a valuable tool for physicians who suspect a patient may have this condition.

Symptoms of Molybdenum Cofactor Deficiency Type C

Molybdenum cofactor deficiency type C is a rare genetic disorder that affects the body's ability to process certain minerals. Symptoms of the condition can include:

• Seizures
• Developmental delays
• Muscle stiffness
• Abnormal movements
• Feeding difficulties
• Intellectual disability

Symptoms of molybdenum cofactor deficiency type C can vary widely from patient to patient. Some patients may experience only mild symptoms, while others may have severe symptoms that significantly impact their quality of life.

Diagnosis of Molybdenum Cofactor Deficiency Type C

The diagnosis of molybdenum cofactor deficiency type C is typically based on a combination of clinical symptoms and genetic testing. If a physician suspects that a patient may have this condition, they may order the GPHN Gene Molybdenum Cofactor Deficiency Type C NGS Genetic DNA Test. This test uses next-generation sequencing technology to identify mutations in the GPHN gene that are associated with the condition.

If the test results are positive, the patient will likely be referred to a genetic counselor or specialist for further evaluation and management. Treatment for molybdenum cofactor deficiency type C is typically supportive and may include medications to control seizures and other symptoms, as well as physical and occupational therapy.

Conclusion

The GPHN Gene Molybdenum Cofactor Deficiency Type C NGS Genetic DNA Test is a valuable tool for physicians who suspect that a patient may have this rare genetic disorder. With a cost of INR 20,000, the test is not commonly ordered, but it can provide important information that can guide patient care and management. If you or a loved one is experiencing symptoms of molybdenum cofactor deficiency type C, talk to your doctor about whether genetic testing may be appropriate.

At DNA Labs India, we are committed to providing accurate and reliable genetic testing services to patients across India. Contact us today to learn more about our services and how we can help you.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for GPHN Gene Molybdenum cofactor deficiency type C NGS Genetic DNA Test