Short Description

NGS genetic DNA test detecets for variant and mutation detection in RAB3GAP1 gene for Warburg micro syndrome type 1

PreTest Information

Clinical History of Patient who is going for RAB3GAP1 Gene Warburg micro syndrome type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RAB3GAP1 Gene Warburg micro syndrome type 1

Detail Description

RAB3GAP1 Gene and Warburg Micro Syndrome Type 1: Understanding Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Warburg Micro Syndrome Type 1 is a rare genetic disorder that affects the development of the brain and the eyes. It is caused by a mutation in the RAB3GAP1 gene, which codes for a protein that plays a crucial role in the transport of vesicles in nerve cells. This mutation leads to the dysfunction of nerve cells and the abnormal development of the brain and the eyes.

Symptoms of Warburg Micro Syndrome Type 1

The symptoms of Warburg Micro Syndrome Type 1 can vary from person to person, but they usually include:

• Microcephaly (a small head size)
• Small and deeply set eyes
• Cataracts
• Intellectual disability
• Muscle stiffness and spasticity
• Seizures
• Hypogonadism (underdeveloped reproductive organs)
• Hearing loss

The severity of the symptoms can also vary, with some individuals experiencing mild symptoms while others have more severe symptoms that can be life-threatening.

Diagnosis of Warburg Micro Syndrome Type 1

Diagnosing Warburg Micro Syndrome Type 1 can be challenging because of its rarity and the variability of symptoms. However, genetic testing can help confirm the diagnosis. The most common genetic test used for diagnosing Warburg Micro Syndrome Type 1 is Next Generation Sequencing (NGS) Genetic DNA Test.

The NGS Genetic DNA Test is a comprehensive genetic test that can detect mutations in hundreds of genes simultaneously. The test analyzes the DNA sample and compares it to a reference genome to identify any genetic variations that may be causing the symptoms. The test is highly accurate and can detect mutations even in cases where other diagnostic tests have failed.

NGS Genetic DNA Test Cost

The cost of the NGS Genetic DNA Test for Warburg Micro Syndrome Type 1 in India is approximately INR 20,000. The cost may vary depending on the laboratory and the specific genetic test used.

Conclusion

Warburg Micro Syndrome Type 1 is a rare genetic disorder that can cause a range of symptoms affecting the brain and the eyes. Genetic testing, particularly the NGS Genetic DNA Test, can help confirm the diagnosis and provide valuable information for managing the symptoms. While the cost of the test may vary, it is a worthwhile investment for individuals and families affected by this condition.

If you suspect that you or a loved one may have Warburg Micro Syndrome Type 1 or any other genetic disorder, it is important to seek medical advice and guidance from a genetic counselor or a healthcare professional.

Contact DNA Labs India today for more information on genetic testing and diagnostic services.

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 RAB3GAP1 Gene Warburg micro syndrome type 1 NGS Genetic DNA Test