Short Description

NGS genetic DNA test detecets for variant and mutation detection in IFIH1 gene for Aicardi-Goutieres syndrome type 7

PreTest Information

Clinical History of Patient who is going for IFIH1 Gene Aicardi-Goutieres syndrome type 7 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with IFIH1 Gene Aicardi-Goutieres syndrome type 7

Detail Description

IFIH1 Gene Aicardi-Goutieres Syndrome Type 7 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Aicardi-Goutieres Syndrome (AGS) is a rare genetic disorder that affects the brain and the immune system. It is caused by mutations in the IFIH1 gene, which codes for a protein involved in the immune response to viruses. AGS is a type of autoimmune disorder that is characterized by inflammation in the brain and other organs, leading to neurological symptoms and developmental delays. AGS is classified into seven types, with type 7 being caused by mutations in the IFIH1 gene.

Symptoms of AGS Type 7

AGS type 7 is a severe form of the disorder that usually presents in the first year of life. The symptoms of AGS type 7 can include:

• Seizures
• Encephalopathy
• Developmental delays
• Muscle weakness
• Spasticity
• Microcephaly
• Visual impairment
• Hepatomegaly
• Splenomegaly
• Lymphadenopathy

The severity of the symptoms can vary depending on the individual and can progress over time. AGS type 7 is a life-threatening condition that can lead to severe neurological damage and developmental disabilities.

Diagnosis of AGS Type 7

AGS type 7 is diagnosed through genetic testing, specifically Next Generation Sequencing (NGS) technology. NGS allows for the rapid and accurate sequencing of the entire IFIH1 gene, which can identify mutations that cause AGS type 7. Genetic testing can also be used to identify carriers of the mutation, which can be important for family planning.

IFIH1 Gene Aicardi-Goutieres Syndrome Type 7 NGS Genetic DNA Test Cost

The cost of the IFIH1 gene Aicardi-Goutieres Syndrome type 7 NGS genetic DNA test is INR 20,000. This cost includes the genetic testing and interpretation of the results by a genetic counselor or medical geneticist. The test is available through DNA Labs India, a leading provider of genetic testing services in India.

Conclusion

AGS type 7 is a rare and severe genetic disorder that affects the brain and the immune system. Genetic testing, specifically NGS technology, can diagnose AGS type 7 and identify carriers of the mutation. The cost of the IFIH1 gene Aicardi-Goutieres Syndrome type 7 NGS genetic DNA test is INR 20,000, and it is available through DNA Labs India. Early diagnosis and treatment can improve the outcomes for individuals with AGS type 7, highlighting the importance of genetic testing for this rare disorder.

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 IFIH1 Gene Aicardi-Goutieres syndrome type 7 NGS Genetic DNA Test