Short Description

NGS genetic DNA test detecets for variant and mutation detection in FANCD2 gene for Fanconi anemia type D2

PreTest Information

Clinical History of Patient who is going for FANCD2 Gene Fanconi anemia type D2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Fanconi anemia type D2

Detail Description

FANCD2 Gene Fanconi Anemia Type D2 NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Fanconi Anemia Type D2 is a rare genetic disorder caused by mutations in the FANCD2 gene. It is characterized by bone marrow failure, developmental abnormalities, and an increased risk of cancer. The disorder is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene to develop the disorder.

Symptoms

The symptoms of Fanconi Anemia Type D2 can vary from person to person, but some of the most common symptoms include:

• Bone marrow failure
• Abnormalities in physical development
• Increased risk of cancer
• Anemia
• Low platelet count
• Low white blood cell count
• Abnormalities in the kidneys, heart, or other organs

Diagnosis

Diagnosing Fanconi Anemia Type D2 can be challenging because the symptoms can be similar to those of other disorders. However, there are several tests that can be used to confirm a diagnosis:

• Physical examination
• Blood tests to check for low blood counts
• Bone marrow biopsy to check for abnormalities
• Genetic testing to look for mutations in the FANCD2 gene

NGS Genetic DNA Test Cost INR 20,000

DNA Labs India offers an NGS Genetic DNA Test for Fanconi Anemia Type D2. This test analyzes the FANCD2 gene for mutations that can cause the disorder. The test costs INR 20,000 and can be performed on a blood or saliva sample.

The NGS Genetic DNA Test is a highly accurate way to diagnose Fanconi Anemia Type D2. It can identify mutations in the FANCD2 gene with a sensitivity of over 99%, making it a reliable tool for diagnosis.

Conclusion

Fanconi Anemia Type D2 is a rare genetic disorder that can cause serious health problems. If you or a loved one are experiencing symptoms of the disorder, it is important to seek medical attention and get a proper diagnosis. The NGS Genetic DNA Test offered by DNA Labs India is a reliable and accurate way to diagnose Fanconi Anemia Type D2, and it can help you get the treatment you need.

For more information about the NGS Genetic DNA Test, visit the DNA Labs India website.