Short Description

NGS genetic DNA test detecets for variant and mutation detection in FOXL2 gene for Blepharophimosis, epicanthus inversus, and ptosis

PreTest Information

Clinical History of Patient who is going for FOXL2 Gene Blepharophimosis, epicanthus inversus, and ptosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FOXL2 Gene Blepharophimosis, epicanthus inversus, and ptosis NGS Genetic DNA Test gene FOXL2

Detail Description

FOXL2 Gene Blepharophimosis, Epicanthus Inversus, and Ptosis NGS Genetic DNA Test

Blepharophimosis, epicanthus inversus, and ptosis are three distinct conditions that can affect the eyes. These conditions are caused by mutations in the FOXL2 gene. The FOXL2 gene provides instructions for making a protein that is important for the development of the eyes and other organs. Mutations in this gene can lead to abnormalities in the structure and function of the eyes.

Symptoms of FOXL2 Gene Blepharophimosis, Epicanthus Inversus, and Ptosis

Blepharophimosis is a condition in which the distance between the inner corners of the eyelids is shorter than normal. Epicanthus inversus is a condition in which the skin fold between the upper eyelid and the nose is turned inwards. Ptosis is a condition in which the upper eyelid droops down, partially or completely covering the eye. These three conditions can occur together or separately, and can affect one or both eyes. In addition to these eye abnormalities, individuals with mutations in the FOXL2 gene may also have other physical abnormalities, such as a small head size, a shortened distance between the nose and upper lip, and low-set ears.

Diagnosis of FOXL2 Gene Blepharophimosis, Epicanthus Inversus, and Ptosis

A diagnosis of FOXL2 gene blepharophimosis, epicanthus inversus, and ptosis can be made based on the presence of the characteristic eye and physical abnormalities. Genetic testing can confirm the presence of a mutation in the FOXL2 gene, and can be used to determine if other family members are at risk of inheriting the condition. Genetic counseling may be recommended for individuals and families affected by FOXL2 gene mutations.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for FOXL2 gene blepharophimosis, epicanthus inversus, and ptosis in India is approximately INR 20,000. This cost may vary depending on the specific testing laboratory and the extent of testing required.

Conclusion

FOXL2 gene blepharophimosis, epicanthus inversus, and ptosis are rare genetic conditions that can cause abnormalities in the structure and function of the eyes. Genetic testing can confirm the presence of a mutation in the FOXL2 gene and can be used to provide a diagnosis for affected individuals and families. NGS genetic DNA testing for FOXL2 gene mutations is available in India at a cost of approximately INR 20,000.

If you suspect that you or a family member may be affected by FOXL2 gene blepharophimosis, epicanthus inversus, and ptosis, it is important to speak with a healthcare professional or genetic counselor for further evaluation and testing.

For more information or to book a test, please contact DNA Labs 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 FOXL2 Gene Blepharophimosis, epicanthus inversus, and ptosis NGS Genetic DNA Test