Niemann-Pick Disease Carrier DNA Tests 

By  Editorial Team

niemann-pick disease carrier dna tests
Niemann-Pick Disease Carrier DNA Tests

Niemann-Pick Disease Carrier DNA Tests

What is Niemann-Pick Disease?


Genetic illness is one thing that individuals need to consider prior to having kids with each other. Two carriers of a gene for a particular condition can manifest as a full-on genetic disease. Niemann-Pick illness is an uncomfortable genetic illness that reduces the sufferer’s life expectancy significantly. The disease does not have a known cure currently, however, researchers continue to carry out research and also studies on it. There are four types of the illness that exist, which are A, B, C1 and C2.

About Niemann-Pick Illness

One in every 250,000 individuals has Niemann-Pick condition, according to the U.S. National Collection of Medication. A lot of the people that develop this condition are of the European Ashkenazi Jewish descent. The condition appears to materialize in a European Ashkenazi Jewish person at the rate of one out of every 40,000 people. Therefore, if you are of this decent, you will no doubt want to know if you carry the gene for this illness and be prepared if you have children.


The A kind of the disease typically manifests in babies before they are six months of age. The kind B disease manifests in kids a little bit later and also its progression is not as rapid as the development of Type A.  Version B patients are likely to have concerns with their livers, spleens, as well as lungs.


Niemann-Pick Type C1, as well as C2 sufferers typically start manifesting symptoms throughout their childhood. A few of the symptoms that they may experience are symptoms such as liver illness, lung condition, muscular tissue tone problems, speech obstacles, difficulty swallowing, seizures and also more. People with C1 and C2 versions of the condition are a lot more likely to live up until they are adults compared to sufferers with Type A and Type B.

Provider DNA Tests For Niemann-Pick Disease

People acquire Niemann-Pick disease in an autosomal recessive way. A DNA blood test can determine the potential for the condition. Healthcare facilities can also run tests on newborn babies to see if they have the illness, however, the goal of DNA carrier testing is to discover if two prospective parents are genetic carriers ahead of time, before having children. If both potential parents are carriers, an informed decision about having children can be made at that time.

Professionals can evaluate the genes in the DNA blood test of potential carriers and also gauge the leukocyte’ ASM activity. Blood examinations are very precise for exposing Type A Niemann-Pick disease.

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