Short Description

NGS genetic DNA test detecets for variant and mutation detection in RTEL1 gene for Dyskeratosis congenita, autosomal recessive type 5

PreTest Information

Clinical History of Patient who is going for RTEL1 Gene Dyskeratosis congenita, autosomal recessive type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RTEL1 Gene Dyskeratosis congenita, autosomal recessive type 5 NGS Genetic DNA Test gene RTEL1

Detail Description

RTEL1 Gene Dyskeratosis Congenita, Autosomal Recessive Type 5 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Dyskeratosis Congenita (DC) is a rare genetic disorder that affects the skin, nails, and mucous membranes. It is caused by mutations in different genes that regulate the maintenance of telomeres, which are the protective caps on the ends of chromosomes. One of the genes that play a role in DC is the RTEL1 gene, which is associated with autosomal recessive type 5 DC.

Symptoms of RTEL1 Gene Dyskeratosis Congenita, Autosomal Recessive Type 5

The symptoms of RTEL1 Gene Dyskeratosis Congenita, Autosomal Recessive Type 5 can vary from person to person. Some of the common symptoms include:

• Abnormal skin pigmentation
• Abnormal nails
• Short stature
• Bone marrow failure
• Pulmonary fibrosis
• Liver disease
• Increased risk of cancer

Diagnosis of RTEL1 Gene Dyskeratosis Congenita, Autosomal Recessive Type 5

The diagnosis of RTEL1 Gene Dyskeratosis Congenita, Autosomal Recessive Type 5 is based on the clinical symptoms, family history, and genetic testing. The genetic testing involves Next-Generation Sequencing (NGS) of the RTEL1 gene, which can detect the mutations that cause the disease.

RTEL1 Gene Dyskeratosis Congenita, Autosomal Recessive Type 5 NGS Genetic DNA Test Cost INR:20000

DNA Labs India offers RTEL1 Gene Dyskeratosis Congenita, Autosomal Recessive Type 5 NGS Genetic DNA Test for INR:20000. The test involves the analysis of the RTEL1 gene using Next-Generation Sequencing (NGS) technology. The results of the test can help in the diagnosis of the disease and in the identification of carriers.

Conclusion

RTEL1 Gene Dyskeratosis Congenita, Autosomal Recessive Type 5 is a rare genetic disorder that can cause a range of symptoms. The diagnosis of the disease involves a combination of clinical symptoms and genetic testing. DNA Labs India offers RTEL1 Gene Dyskeratosis Congenita, Autosomal Recessive Type 5 NGS Genetic DNA Test for INR:20000, which can help in the diagnosis of the disease and in the identification of carriers.

If you suspect that you or someone in your family has RTEL1 Gene Dyskeratosis Congenita, Autosomal Recessive Type 5, it is important to consult a genetic counselor and get tested.

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 RTEL1 Gene Dyskeratosis congenita, autosomal recessive type 5 NGS Genetic DNA Test