Short Description

NGS genetic DNA test detecets for variant and mutation detection in PHOX2A gene for Fibrosis of extraocular muscles, congenital type 2

PreTest Information

Clinical History of Patient who is going for PHOX2A Gene Fibrosis of extraocular muscles, congenital type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PHOX2A Gene Fibrosis of extraocular muscles, congenital type 2 NGS Genetic DNA Test gene PHOX2A

Detail Description

PHOX2A Gene Fibrosis of Extraocular Muscles, Congenital Type 2: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Fibrosis of extraocular muscles is a rare genetic disorder that affects the muscles controlling the movement of the eyes. The condition is caused by mutations in the PHOX2A gene, which plays an essential role in the development and function of the nervous system. Congenital type 2 fibrosis of extraocular muscles is one of the subtypes of this condition, and it is characterized by the involvement of both the superior and inferior rectus muscles.

Symptoms of Congenital Type 2 Fibrosis of Extraocular Muscles

The symptoms of congenital type 2 fibrosis of extraocular muscles typically present in early childhood and may include:

• Squinting or crossed eyes
• Abnormal head posture
• Difficulty moving the eyes in certain directions
• Poor depth perception

Diagnosis of Congenital Type 2 Fibrosis of Extraocular Muscles

Diagnosis of congenital type 2 fibrosis of extraocular muscles is typically made based on a combination of clinical features and genetic testing. A thorough eye examination by an ophthalmologist can help identify the specific muscles affected and the extent of their involvement. Genetic testing can confirm the diagnosis by identifying mutations in the PHOX2A gene.

NGS Genetic DNA Test for Congenital Type 2 Fibrosis of Extraocular Muscles

Next-generation sequencing (NGS) is a powerful genetic testing technology that enables the identification of mutations in multiple genes simultaneously. NGS testing for congenital type 2 fibrosis of extraocular muscles can be performed on a blood or saliva sample and can identify mutations in the PHOX2A gene with high accuracy.

Cost of NGS Genetic DNA Test for Congenital Type 2 Fibrosis of Extraocular Muscles

The cost of NGS genetic DNA testing for congenital type 2 fibrosis of extraocular muscles in India is typically around INR 20,000. However, the exact cost may vary depending on the specific testing laboratory and any additional testing or consultation fees.

Conclusion

Congenital type 2 fibrosis of extraocular muscles is a rare genetic disorder that can lead to significant visual impairment and other complications. Early diagnosis through a combination of clinical examination and genetic testing can enable appropriate management and treatment of the condition. NGS genetic DNA testing is a powerful tool for identifying mutations in the PHOX2A gene and can be performed at a reasonable cost in India.

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 PHOX2A Gene Fibrosis of extraocular muscles, congenital type 2 NGS Genetic DNA Test