Short Description

NGS genetic DNA test detecets for variant and mutation detection in PARN gene for Dyskeratosis congenita, autosomal recessive type 6

PreTest Information

Clinical History of Patient who is going for PARN Gene Dyskeratosis congenita, autosomal recessive type 6 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PARN Gene Dyskeratosis congenita, autosomal recessive type 6 NGS Genetic DNA Test gene PARN

Detail Description

PARN Gene Dyskeratosis Congenita, Autosomal Recessive Type 6 NGS Genetic DNA Test

Dyskeratosis Congenita (DC) is a rare genetic disorder that affects multiple organs and systems. DC is a progressive disease that is caused by mutations in genes that are responsible for maintaining the stability of telomeres, which are the protective caps at the ends of chromosomes. These telomeres protect the DNA from damage and ensure that the cells can divide and function properly. One such gene that is involved in maintaining telomeres is the PARN gene.

Symptoms of PARN Gene Dyskeratosis Congenita

The symptoms of PARN Gene Dyskeratosis Congenita can vary from person to person, but they typically start to appear during childhood or adolescence. Some of the common symptoms of this condition include:

• Abnormal skin pigmentation
• Nail abnormalities
• Abnormalities in the mouth and throat
• Bone marrow failure
• Lung disease
• Increased risk of cancer

Diagnosis of PARN Gene Dyskeratosis Congenita

The diagnosis of PARN Gene Dyskeratosis Congenita is typically made based on the patient's symptoms and medical history. A physical examination may reveal the characteristic skin and nail abnormalities associated with the condition. Blood tests and bone marrow biopsies may also be performed to check for abnormalities in the blood cells.

A genetic test is the most accurate way to diagnose PARN Gene Dyskeratosis Congenita. This test involves analyzing a sample of the patient's DNA to look for mutations in the PARN gene. If a mutation is found, the patient is diagnosed with PARN Gene Dyskeratosis Congenita.

NGS Genetic DNA Test for PARN Gene Dyskeratosis Congenita

The NGS Genetic DNA Test for PARN Gene Dyskeratosis Congenita is a highly accurate and reliable test that can help diagnose this condition. This test uses next-generation sequencing (NGS) technology to analyze the patient's DNA and look for mutations in the PARN gene.

The cost of the NGS Genetic DNA Test for PARN Gene Dyskeratosis Congenita is INR 20,000.

Conclusion

PARN Gene Dyskeratosis Congenita is a rare genetic disorder that can cause a range of symptoms, including abnormal skin pigmentation, nail abnormalities, and bone marrow failure. A genetic test is the most accurate way to diagnose this condition, and the NGS Genetic DNA Test for PARN Gene Dyskeratosis Congenita is a highly reliable and accurate test that can help diagnose this condition. If you or a loved one is experiencing symptoms of PARN Gene Dyskeratosis Congenita, it is important to seek medical attention and consider genetic testing.

For more information about the NGS Genetic DNA Test for PARN Gene Dyskeratosis Congenita, please contact DNA Labs India.