Test Name	TIMM8A Gene Opticoacoustic nerve atrophy with dementia NGS Genetic DNA Test
Test type	ENT Doctor
Pre-test Information	Clinical History of Patient who is going for GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic DNA Test gene GJB15
Report Delivery	3 to 4 Weeks
Components
Price	₹ 20000
Method	NGS Technology

Short Description

NGS genetic DNA test detecets for variant and mutation detection in TIMM8A gene for Opticoacoustic nerve atrophy with dementia

PreTest Information

Clinical History of Patient who is going for GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic DNA Test gene GJB15

Detail Description

Understanding TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia

Introduction

TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia is a rare genetic disorder characterized by the degeneration of the optic and acoustic nerves, leading to vision and hearing loss, along with cognitive decline. The disease is caused by mutations in the TIMM8A gene, which plays a crucial role in the transport of proteins into the mitochondria, the powerhouse of the cell.

Symptoms

The symptoms of TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia can vary depending on the severity of the disease, but typically include: - Vision loss - Hearing loss - Cognitive decline - Delayed motor development - Seizures

Diagnosis

The diagnosis of TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia is made through genetic testing, specifically Next Generation Sequencing (NGS) of the TIMM8A gene. This test allows for the detection of mutations in the gene and can confirm a diagnosis.

Treatment

Unfortunately, there is currently no cure for TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia. Treatment is typically focused on managing symptoms and providing supportive care. This can include the use of hearing aids, vision aids, and therapy to help with cognitive decline.

Cost of NGS Genetic DNA Test

The cost of the NGS Genetic DNA Test for TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia in India is approximately INR 20,000.

Conclusion

TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia is a rare genetic disorder that can have a significant impact on an individual's vision, hearing, and cognitive abilities. Genetic testing, specifically NGS of the TIMM8A gene, is crucial for accurate diagnosis. Although there is currently no cure for the disease, supportive care can help manage symptoms and improve quality of life. If you or a loved one are experiencing symptoms of TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia, it is important to speak with a healthcare professional to determine the best course of action.

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 TIMM8A Gene Opticoacoustic nerve atrophy with dementia NGS Genetic DNA Test