Applied Genetics - Diagnostic Services

Diagnostic Services  

All of the following services help us determine your diagnosis.  Please click each service below to learn more:

 

  • Types of CLIA (Clinical Laboratory Improvement Amendments) genetic testing:
    • Whole Genome Sequencing (WGS) – analyzes 100% of DNA
    • Whole Exome Sequencing (WES) – analyzes 2% of DNA, but this 2% is where most disease-causing mutations are found
    • Panel Sequencing – analyzes a certain set of genes; typically these are grouped by diagnosis
      • For example, a retinal dystrophy panel or a retinitis pigmentosa panel

    • Single-gene Sequencing – analyzes a single gene
    • Sanger Sequencing – analyzes a specific mutation within a gene
      • For example, there is a misspelling in your DNA sequence and it causes the wrong protein to be created

    • Depending on the type of testing ordered, results can be received in as little as 2 weeks or as many as 6 months.

 

  • Genetic Counseling
    •  Not all eye conditions are inherited genetic disorders. In order to better understand if Applied Genetics at Columbia Ophthalmology is the best fit, you must first be evaluated by a genetics specialist. At CUIMC, this specialist is a genetic counselor. Genetic counselors have advanced training in medical genetics and in counseling techniques, which allows them to both assess genetic risk and clearly communicate with patients and families every step of the way. At CUIMC, our genetic counseling is split into two distinct appointments. The first appointment is the pre-testing appointment. This is where the genetic counselor will gather a detailed medical and family history to begin the genetic evaluation process. In addition to the beginning of the genetic risk assessment, the genetic counselor will communicate how the genetic testing process works, including the types of genetic testing recommended, the pricing of each option, and the risks, limitations and benefits of genetic testing. The genetic counselor can address your concerns about testing and help determine which test is right for you and your family. All of this information will be an essential component of your appointment with your ophthalmologist as they try to come to an accurate diagnosis. A sample for genetic testing will be collected at this pre-testing appointment. Once the results arrive, there will be a follow-up genetic counseling appointment. At this appointment, the genetic counselor will explain what your genetic testing results mean. The genetic counselor will also discuss if any further testing is needed, help coordinate family testing if desired, and discuss next steps for the patient in their journey. If no further testing is needed, genetic counseling would remain available for patients in the program on an as-needed basis to address questions and concerns.

 

  • Imaging
    • As part of your ophthalmology appointment, you may receive imaging.  Imaging is a very important aspect of an ophthalmology appointment because it allows the physician to non-invasively assess the condition of the inside of the eye.  Different diagnoses require different types of imaging because of the specific areas of the eye that they affect.  Imaging typically happens at the beginning of the ophthalmology appointment and can take 2-3 hours depending on how many types of imaging need to be performed.  Types of imaging performed are typically focused on the retina.  The ophthalmologist will use the results of your imaging to help explain your condition.

 

  • ERG
    • An ERG (electroretinogram) is a test that records the electrical activity of the retina.  Through this recording, the ERG analyzes the functionality of the retina and therefore gives the ophthalmologist important information needed to determine prognosis.  For certain diagnoses, cones (day seeing cells) will be more affected than rods (night seeing cells) and vice versa.  The ERG will reveal if there is damage in the cones, rods, or both and will also reveal the level of damage.  As a result of measuring the level of damage, the ERG will need to be repeated periodically to see how the functionality of the retina is changing.  This will enable the ophthalmologist to determine your prognosis and estimate the number of years of useful vision you may have left.  An ERG takes about 2-3 hours to complete and because of this, it is scheduled as a separate appointment. 
      • Please note that ERG appointments are only open to Applied Genetics patients.