Berries Health Eye Disorders and Retinopathies (Eye) Panel  

The Berries Health Eye Disorders and Retinopathies Panel investigates genetic variations linked to various eye disorders, including night blindness, color blindness, retinitis pigmentosa, nystagmus, age-related macular degeneration, cataracts, glaucoma, microphthalmia, severe vision reduction, and more, as documented at the end of this pamphlet. 

Purpose of the Eye Disorder Genetic Test 

The Eye Disorder genetic testing panel is suitable for individuals with a personal or family history of eye disorders, particularly when multiple family members are affected. Emerging gene therapy technologies for retinopathies and other genetic eye disorders are becoming more accessible. Unlike other organs, the eyes are relatively easy to target for gene therapy. As treatment options advance, early diagnosis of eye disorders becomes essential. The clinical utility of genetic testing for eye disorders encompasses both prevention and treatment options. 

This panel aids in confirming diagnoses and guiding treatment strategies. Individuals with eye disorders may benefit from potential g priate diagnosis. 

Clinical Utility 

The Eye Disorder genetic testing panel results in personalized treatment and symptom management, informs family members about their risk factors, connects patients to relevant resources and support, and provides options for family planning. 

Methodology 

The test searches for inherited genetic variations (germline mutations) associated with eye disorders. Genes, composed of DNA sequences, provide instructions for building proteins. Variants of these genes can differ slightly and may impact health, such as those linked to optic atrophy and retinitis pigmentosa. 

Several genes are associated with eye disorders like AMD, a condition where the macula in the retina is damaged, leading to a loss of central vision while peripheral vision typically remains unaffected. Night blindness is another genetic condition characterized by impaired vision in dim light. Retinitis pigmentosa (RP) consists of rare genetic diseases affecting the retina, where retinal cells gradually break down, resulting in vision loss. 

Testing may confirm whether an individual carries a harmful (pathogenic) variant in these genes, indicating a hereditary syndrome. 

The Eye Disorder genetic test panel examines a specific set of genes for genetic changes compared to human reference variants linked to eye disorders. The Berries Health Eye Disorders and Retinopathies Panel is a Laboratory Developed Test (LDT) validated by Berries Health lab partner, utilizing Twist Exome 2.0 and Illumina NovaSeq6000 Next Generation Sequencing (NGS) Platform. This clinical LDT test has not been cleared or approved by the FDA. 

Outcomes of Genetic Test Results 

1. Positive Result: A positive result indicates the identification of a pathogenic variant linked to an eye disorder. Some eye disorders are dominant, requiring only one defective gene copy to manifest, while others are recessive, necessitating both copies. A heterozygous pathogenic variation suggests the individual is a carrier, potentially without displaying symptoms. This knowledge helps patients and healthcare providers understand and manage treatment plans effectively. 
2. Variation of Uncertain Significance (VUS): If genetic testing reveals a change not previously associated with eye disorders, the result may be classified as a VUS. This indicates uncertain significance, suggesting the information does not clarify the individual’s disease risk and is not typically used for healthcare decision-making. As research progresses, some variants may be reclassified. Thus, maintaining communication with healthcare providers for updates on variant findings is crucial. 
3. Negative Result: A negative test result signifies that no specific disease-linked variants were detected in the genes tested. This suggests the individual does not have genetic variations associated with eye disorders within the analyzed panel. 

Limitations of Testing 

This test is designed to identify germline pathogenic variants, including single nucleotide polymorphisms (SNPs) and small insertions and deletions (indels) of up to 1 kilobase pair (kbp). It also analyzes mutations within coding regions and the exon-intron boundaries, specifically within 50 base pairs. Any deletions or duplications larger than 1 kbp that are reportable will be confirmed using orthogonal methods before being included in the final report.

Berries Health Eye Disorders and Retinopathies (Eye) Panel