Short Description

NGS genetic DNA test detecets for variant and mutation detection in GTF2H5 gene for Trichothiodystrophy

PreTest Information

Clinical History of Patient who is going for GTF2H5 Gene Trichothiodystrophy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GTF2H5 Gene Trichothiodystrophy NGS Genetic DNA Test gene GTF2H5

Detail Description

GTF2H5 Gene Trichothiodystrophy NGS Genetic DNA Test: Symptoms, Diagnosis and Cost

Trichothiodystrophy is a rare genetic disorder characterized by brittle hair, dry skin, and intellectual disability. It is caused by mutations in the GTF2H5 gene, which encodes a protein involved in DNA repair. Trichothiodystrophy can be diagnosed using Next-Generation Sequencing (NGS) genetic DNA testing, which detects mutations in the GTF2H5 gene. This blog will provide information on the symptoms, diagnosis, and cost of GTF2H5 gene Trichothiodystrophy NGS genetic DNA testing in India.

Symptoms of Trichothiodystrophy

Trichothiodystrophy is a rare genetic disorder that affects multiple systems in the body. The symptoms of Trichothiodystrophy can vary in severity and include:

• Brittle hair that is easily broken or falls out
• Dry skin that is prone to rashes and infections
• Growth retardation and intellectual disability
• Photosensitivity and eye abnormalities
• Abnormal nails and teeth
• Increased risk of infections and cancer

Diagnosis of Trichothiodystrophy

Trichothiodystrophy can be diagnosed using genetic testing, which detects mutations in the GTF2H5 gene. Next-Generation Sequencing (NGS) genetic DNA testing is the most accurate and reliable method for detecting mutations in the GTF2H5 gene. NGS genetic DNA testing involves sequencing the entire GTF2H5 gene to identify any mutations that may be present. The results of the test can confirm a diagnosis of Trichothiodystrophy and provide information on the specific mutation that is causing the condition.

Cost of GTF2H5 gene Trichothiodystrophy NGS Genetic DNA Test in India

The cost of GTF2H5 gene Trichothiodystrophy NGS Genetic DNA Test in India varies depending on the laboratory and the location. The average cost of the test in India is around INR 20,000. It is important to note that the cost of the test may vary depending on the specific mutation that is being tested for and the complexity of the test.

Conclusion

Trichothiodystrophy is a rare genetic disorder that can cause a range of symptoms, including brittle hair, dry skin, and intellectual disability. Genetic testing, specifically Next-Generation Sequencing (NGS) genetic DNA testing, can be used to diagnose Trichothiodystrophy by identifying mutations in the GTF2H5 gene. The cost of GTF2H5 gene Trichothiodystrophy NGS Genetic DNA Test in India is around INR 20,000. If you suspect that you or a loved one may have Trichothiodystrophy, it is important to speak with a healthcare professional who can provide further information and guidance on testing and treatment options.

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 GTF2H5 Gene Trichothiodystrophy NGS Genetic DNA Test