Short Description

NGS genetic DNA test detecets for variant and mutation detection in TERT gene for Dyskeratosis congenita, autosomal recessive type 4/ autosomal dominant type 2

PreTest Information

Clinical History of Patient who is going for TERT Gene Dyskeratosis congenita, autosomal recessive type 4/ autosomal dominant type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TERT Gene Dyskeratosis congenita, autosomal recessive type 4/ autosomal dominant type 2 NGS Genetic DNA Test gene TERT

Detail Description

DNA Labs India: TERT Gene Dyskeratosis Congenita, Autosomal Recessive Type 4/ Autosomal Dominant Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Dyskeratosis congenita is a rare genetic disorder that affects various parts of the body. It is caused by mutations in the TERT gene, which is involved in the production of a protein that helps maintain the length of telomeres, the protective caps on the ends of chromosomes. Dyskeratosis congenita can be inherited in an autosomal recessive or autosomal dominant manner, and there are several subtypes of the condition.

Symptoms of Dyskeratosis Congenita

The symptoms of dyskeratosis congenita can vary widely depending on the subtype of the condition and the age at which symptoms first appear. Some of the most common symptoms include:

• Skin pigmentation changes
• Nail abnormalities
• Oral leukoplakia (white patches in the mouth)
• Abnormalities in the bone marrow leading to anemia, infections, and bleeding disorders
• Pulmonary fibrosis (scarring of the lungs)
• Liver abnormalities
• Cancer predisposition

Diagnosis of Dyskeratosis Congenita

Dyskeratosis congenita is typically diagnosed through a combination of clinical examination, blood tests, and genetic testing. The clinical examination may reveal characteristic physical features such as skin pigmentation changes and nail abnormalities. Blood tests can be used to evaluate the functioning of the bone marrow and liver. Genetic testing can identify mutations in the TERT gene that are associated with dyskeratosis congenita.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for dyskeratosis congenita at DNA Labs India is INR 20,000.

Conclusion

Dyskeratosis congenita is a rare genetic disorder that can cause a range of symptoms affecting various parts of the body. It is caused by mutations in the TERT gene and can be inherited in an autosomal recessive or autosomal dominant manner. Diagnosis typically involves a combination of clinical examination, blood tests, and genetic testing. NGS genetic DNA testing for dyskeratosis congenita is available at DNA Labs India for a cost of INR 20,000.

If you suspect that you or a loved one may have dyskeratosis congenita, it is important to seek medical evaluation and genetic testing to confirm a diagnosis and receive appropriate management and treatment.

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 TERT Gene Dyskeratosis congenita, autosomal recessive type 4/ autosomal dominant type 2 NGS Genetic DNA Test