Progenika Inc

• Is a simple cholesterol test not enough for diagnosis?
• Will FH go away?
• If I have FH will my children have FH?
• If my brother or sister does not have FH genetically am I safe? 
  
• What happens if my children have genetically confirmed FH?
  
• My father had coronary artery disease but I feel fine. Does this means I'm FH free?
  
• If I test negative for FH using LIPOchip does this mean I do not have FH genetically?
  
• Do I have to get retested every few years?
  
• Is the LIPOchip test painful?
  
• Does the LIPOchip test identify all mutations in the LDLR gene that causes FH?
  
• Who is the "index" or "proband"?
  
• Can I order this test from Progenika directly?
  

Is a simple cholesterol test not enough for diagnosis?
Genetic testing is valuable because the genetic variations are permanent so can guide treatment and your adherence to the treatment. Moreover, it can help indicate if your children should be tested and testing early is crucial. Also LDLc levels can be masked by high levels of triglycerides or fibrinogen, which do not affect testing by the LIPOchip.

Will FH go away?
No. You will always have FH which decreases your body's ability to remove cholesterol. So permanent treatment regimens and lifestyle modifications will be necessary to counter the progression of the disease.

If I have FH will my children have FH?
Maybe. FH comes in two forms, heterozygous FH and the more severe homozygous FH. If one parent has heterozygous FH there is a 50% chance that their children will have heterozygous FH. But if both parents have heterozygous FH there is a 50% chance a child will also have heterozygous FH and an additional 25% chance that a child will have the more severe form of the disease, homozygous FH. Homozygous FH occurs in about 1 in a million births.

If my brother or sister does not have FH genetically am I safe?
No. You could still have FH if one of your parents has FH.   

What happens if my children have genetically confirmed FH?
Studies have shown early treatment even in children has been very effective at combating the long term effects of FH.

My father had coronary artery disease but I feel fine. Does this means I'm FH free?
Cholesterol build up is cumulative and silent. If one of your parents has FH there is a 50% chance you have FH (higher if both your parents have FH). LIPOchip can help confirm the genetic basis and then guide testing of relevant family members, your children, your siblings and their children.

If I test negative for FH using LIPOchip does this mean I do not have FH genetically?
No. The LIPOchip looks for the most common causes of FH which are genetic variations in the LDLR and APOB genes. However, as scientists study FH they may identify new variants in genes not currently measured with the LIPOchip.

Do I have to get retested every few years?
No, just once is enough.

Is the LIPOchip test painful?
No. All that is required is patient DNA. This can be provided by a blood draw.

Does the LIPOchip test identify all mutations in the LDLR gene that causes FH?
Yes, in a two part system. We first screen the DNA for known mutations using our LIPOchip. If there is an indication that the DNA contains a variation not on our LIPOchip we then sequence the sample. This will identify any LDLR variations not on the LIPOchip.

Who is the "index" or "proband"?
This is a medical phrase that refers to the first patient to be tested and found to have the disease within a family.

Can I order this test from Progenika directly?
LIPOchip must be prescribed by your physician.  You can contact us for more information on the test for yourself and your doctor.