Symptoms and Testing information for TGFBI Gene Corneal dystrophy epithelial basement membrane Genetic Test

Symptoms and Testing information for TGFBI Gene Corneal dystrophy epithelial basement membrane Genetic Test

In the realm of genetic diagnostics, the identification of specific gene mutations that contribute to hereditary diseases is a crucial step in providing personalized medicine and targeted treatments. Among these genetic conditions, corneal dystrophies, particularly those associated with the TGFBI gene, have garnered significant attention due to their impact on vision and quality of life. […]

Symptoms and Testing information for KIF21A Gene Fibrosis of extraocular muscles congenital type 1 Genetic Test

Symptoms and Testing information for KIF21A Gene Fibrosis of extraocular muscles congenital type 1 Genetic Test

Understanding KIF21A Gene Fibrosis of Extraocular Muscles Congenital Type 1 Fibrosis of the extraocular muscles congenital type 1 (CFEOM1) is a rare genetic disorder that primarily affects the muscles that control eye movement. It is caused by mutations in the KIF21A gene. Individuals with this condition often present with a distinctive eye movement disorder from […]

Symptoms and Testing information for NLRP1 Gene Corneal intraepithelial dyskeratosis and ectodermal dysplasia Genetic Test

Symptoms and Testing information for NLRP1 Gene Corneal intraepithelial dyskeratosis and ectodermal dysplasia Genetic Test

Symptoms of NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia Understanding the symptoms of NLRP1 gene corneal intraepithelial dyskeratosis and ectodermal dysplasia is crucial for early diagnosis and treatment. This genetic condition, although rare, affects multiple body systems, including the skin, hair, teeth, and eyes. Individuals with mutations in the NLRP1 gene often exhibit a […]

Symptoms and Testing information for CHN1 Gene Duane Retraction syndrome Genetic Test

Symptoms and Testing information for CHN1 Gene Duane Retraction syndrome Genetic Test

Duane Retraction Syndrome (DRS) is a congenital eye movement disorder that limits the ability of the eye to move outward toward the ear (abduction) and, in some cases, also limits movement inward toward the nose (adduction). This condition is often associated with the CHN1 gene, and understanding its symptoms is crucial for early diagnosis and […]

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