Niemann-Pick disease is a disorder that affects the cells that break down and recycle other molecules. A small percentage of people with Niemann-Pick disease type C (NPC) have changes in the NPC2 gene.
People affected by NPC type C have difficulty transporting cholesterol and other fats (lipids) into lysosomes (the cells that break down other moecules). Fats accumulate in the cells which cam affect many different organs and their ability to function. Symptoms usually begin in childhood, although they may appear later into adulthood. The first changes reported are the people typically develop difficulty coordinating movements (ataxia), an inability to move the eyes vertically, involuntary muscle tensing , severe liver disease, and lung disease. Other symptoms may include speech and swallowing difficulties, seizures, tremors, and progressive intellectual decline. In more severe case - this can be a significantly life limiting condition. Treatment is focused on managing the individual's symptoms.
As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.
Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic disease in your child. Eugene offers an inclusive genetic carrier screening panel that includes Niemann-Pick disease type C (NPC2-related), but there's a total 301 conditions that can be tested.
Eugene’s carrier test is a clinical grade test that can be done from the comfort of your own home — it’s just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.Learn more about carrier screening
The biggest benefit of screening for Niemann-Pick disease type C (NPC2-related) is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic disease is low.