Inherited Disease

Inherited Disease

Genetic Determinants of Disease

Many advances have been made in recent years to understand more about the underlying genetic causes of inherited diseases. Inherited diseases cover a wide range of disorders and are caused by one or more mutations in the genetic code passed from parent to child; these inherited disease mutations differ from spontaneous or de novo mutations, such as in some forms of cancer, which occur in the body due to environmental effects and are not necessarily passed on to offspring.

Inherited mutations can be autosomal recessive (mutations must be passed from both parents to result in a disease state) or autosomal dominant (the disease can manifest in a child based on mutations from only one parent's DNA). Depending on the location and nature of the mutation, genetic changes can have a range of phenotypes and manifest in conditions such as heart malformations, autoimmune disorders, metabolic disorders, or developmental disorders. Some of these genetic mutations have relatively minor effects but some may have effects that are quite severe and even fatal.

Carrier screening tests can be conducted pre-pregnancy to assess potential risk factors of the parents. During pregnancy, testing including novel techniques such as noninvasive prenatal testing (NIPT) can be conducted for genetic analysis. It is important to understand the family history of the parents when doing these types of genetic testing, as different ethnic populations can have increased risk for certain inherited mutations. Individuals of Ashkenazi (East European) Jewish ancestry for example may be more likely to inherit genetic conditions such as Tay-Sachs disease, Canavan disease, or Gaucher disease, while cystic fibrosis tends to be more common among those with Northern European ancestry.

Cystic fibrosis is a life-threatening disease of the respiratory, digestive, and reproductive systems where abnormally thick mucus linings are produced, caused by autosomal recessive mutations to the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. Different types of mutations have been identified as disease-causing in the CFTR gene, ranging from single nucleotide polymorphisms (SNPs) like the G551D missense mutation to small deletions of several base pairs like the most commonly found ΔF508 mutation. Cystic fibrosis is estimated to affect 70,000 to 100,000 people worldwide, and is only one of thousands of inherited genetic diseases, many which are more rare. It is often difficult yet very important to have fast, reliable, and easy ways to study these rare diseases.

Canon BioMedical provides a broad collection of Research Use Only (RUO) PCR genotyping assays for inherited diseases that enable scientists to study the genetics behind these conditions and the human body’s response to therapeutic treatment.

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Novallele Genotyping Assay Search

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Novallele Genotyping Assays are ideal for obtaining genomic variation results. These assays are designed to test for single nucleotide polymorphisms (SNPs) and small insertions/deletions that have been linked to human biology. The assays are compatible with a rapid PCR protocol followed by High Resolution Melt Analysis (HRMA).

The Novallele Genotyping Assays are recommended to be used in conjunction with Novallele Genotyping Mastermix that is designed to be used with your preferred HRMA-compatible thermocycler. Use the Search Tool below to find a Novallele Genotyping Assay.

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