Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACD gene for Dyskeratosis congenita, autosomal recessive type 7

PreTest Information

Clinical History of Patient who is going for ACD Gene Dyskeratosis congenita, autosomal recessive type 7 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ACD Gene Dyskeratosis congenita, autosomal recessive type 7 NGS Genetic DNA Test gene ACD

Detail Description

ACD Gene Dyskeratosis Congenita - DNA Labs India

Dyskeratosis Congenita (DC) is a rare genetic disorder that affects multiple systems in the body. It is caused by mutations in various genes that lead to the premature aging of cells and tissues. Autosomal Recessive Type 7 (AR7) is a subtype of DC caused by mutations in the ACD gene. ACD provides instructions for making a protein called TPP1 that is involved in the maintenance of telomeres.

Symptoms of ACD Gene Dyskeratosis Congenita

The symptoms of ACD Gene Dyskeratosis Congenita may vary from person to person. Some of the common symptoms include:

• Abnormal skin pigmentation
• Nail dystrophy (malformed or absent nails)
• Bone marrow failure
• Lung disease
• Abnormalities in the digestive system
• Increased risk of cancer

Diagnosis of ACD Gene Dyskeratosis Congenita

Diagnosis of ACD Gene Dyskeratosis Congenita involves a physical examination, medical history, and genetic testing. Genetic testing is the most reliable method of diagnosing DC. It involves analyzing a person's DNA to look for mutations in the ACD gene. DNA Labs India offers NGS Genetic DNA Test for ACD Gene Dyskeratosis Congenita that provides accurate and reliable results.

NGS Genetic DNA Test Cost at DNA Labs India

The cost of NGS Genetic DNA Test for ACD Gene Dyskeratosis Congenita at DNA Labs India is INR 20,000. The test is performed using Next-Generation Sequencing (NGS) technology that provides high-resolution data for accurate diagnosis.

Conclusion

ACD Gene Dyskeratosis Congenita, Autosomal Recessive Type 7 is a rare genetic disorder that can cause a range of symptoms. Genetic testing is the most reliable method of diagnosing DC. DNA Labs India offers NGS Genetic DNA Test for ACD Gene Dyskeratosis Congenita at an affordable cost of INR 20,000. If you or your loved one is experiencing any symptoms of DC, it is important to consult a healthcare provider and consider genetic testing for accurate diagnosis.