Test menu: Ophthalmology

Blueprint Genetics is changing diagnostics by providing accessible and actionable genetic diagnostics in all medical specialties. We want to support healthcare professionals around the world in providing the best care for patients and families with rare inherited diseases. We do that by delivering answers using fast, affordable and comprehensive genetic diagnostics.

Whole Genome Sequencing CNV is considered the best first line genetic diagnostic product for patients with clinical suspicion of large chromosomal abnormalities or microdeletion/microduplication syndromes.

Results are available in 10 days.

Whole Exome Sequencing (WES) provides an effective discovery approach to diagnostics in a large variety of genetic disorders. WES is particularly useful for patients suffering from complex genetic disorders where selecting an optimal diagnostic panel is difficult, a panel is not available, or where previous genetic testing has been negative.

We offer four types of high-quality WES tests with TAT of 6-9 weeks.

Blueprint Genetics provides efficient testing to family members of the probands (index patients) that have previously been or are currently analyzed at Blueprint Genetics. We provide family members with mutation-specific Sanger tests (1-3 mutations).

Analysis methods

method-icon Sequence Analysis

Our Sequence Analysis is based on a proprietary targeted sequencing method OS-Seq™ and offers panels targeted for genes associated with certain phenotypes.

method-icon Targeted Del/Dup (CNV)

Targeted Del/Dup (CNV) analysis is used to detect bigger disease causing deletions or duplications from the disease-associated genes.

method-icon Plus Analysis

Plus Analysis combines Sequence + Del/Dup (CNV) Analysis providing increased diagnostic yield in certain clinical conditions, where the underlying genetic defect may be detectable by either of the analysis methods. Results in 21 days.