If you were shown to have a condition, it may mean that you were found to have two variants in the same gene. If both variants are found to be on the same chromosome (called in cis on your report), it means you are a carrier and do not have the condition. If the variants are found to be on opposite chromosomes (called in trans on your report), you would be considered to be potentially affected with the condition. Some variants have mild effects and only cause disease when a more severe variant is found on the opposite chromosome.
Sometimes the lab cannot determine if the variants are on the same or opposite chromosomes. If this is the case and you have symptoms of the condition, or if your test results indicate that the variants are on opposite chromosomes, we recommend following up with a specialist. You may also consider having family members tested, which can help determine if your variants are in cis or in trans.
You should discuss your results with your provider and a genetic counselor if you have not done so yet. If you would like to speak with a Sema4 genetic counselor, please call (800) 298-6470 and choose Option 2.