The CYP3A4 c.830dupA Novallele Genotyping Assay identifies a duplication within the CYP3A4 gene. Cytochrome P450 proteins catalyze many reactions involved in drug metabolism and synthesis. Research suggests that mutations in the CYP3A4 gene may be linked to metabolism of approximately half the drugs used today, including acetaminophen and codeine.
The DLX3 c.561_562delCT Novallele Genotyping Assay identifies a small deletion within the DLX3 gene. The DLX3 gene contains a homeobox that is expressed in the head and limbs of fruit flies. Research demonstrates that mutations of the DLX3 gene may play a role in autosomal dominant conditions such as tricho-dento-osseous (TDO) syndrome.
The DNMT1 c.1389A>G Novallele Genotyping Assay identifies a single nucleotide change associated with the DNMT1 gene. Mutations of the DNMT1 gene are associated with hereditary sensory and autonomic neuropathy (HSAN). HSAN is characterized by dementia, deafness, and sensory problems in the feet. In addition, DNMT1 mutations are also responsible for an increased risk of cancer including cancers of the breast and stomach and certain brain cancers called glioma.
EIF2B5 c.584G>A c.583C>T
The EIF2B5 c.584G>A c.583C>T Novallele Genotyping Assay detects and distinguishes between both the EIF2B5 c.584G>A and EIF2B5 c.583C>T mutations of the EIF2B5 gene. Mutations of the EIF2B5 are related to leukoencephalopathy and central nervous system ataxia.
The ESR1 c.1125G>T Novallele Genotyping Assay detects a single nucleotide change in the ESR1 gene. Mutations of the ESR1 gene are commonly associated with estrogen resistance and migraines.
The ESR1 c.469C>T Novallele Genotyping Assay identifies a single nucleotide change in the ESR1 gene. Mutations of the ESR1 gene are commonly associated with estrogen resistance and migraines.
The EVC c.969T>C Novallele Genotyping Assay identifies a single nucleotide change that is associated with the EVC gene. Mutations of the EVC gene cause Ellis-van Creveld syndrome as well as Weyers acrofacial dysostosis. These conditions are characterized by dwarfism, heart defects, and underdeveloped bones.
The F13A1 c.103G>T Novallele Genotyping Assay identifies a single mutation associated with the F13A1 gene. Mutations of this gene are associated with Factor XIII subunit A deficiency. Factor XIII subunit A deficiency is an autosomal recessive hematologic disorder characterized by life-long bleeding tendency, impaired wound healing, and spontaneous abortion in affected women.
The F5 c.1601G>A Novallele Genotyping Assay identifies a single nucleotide change within Factor V (F5) gene, which has been linked to Factor V Leiden thrombophilia. Factor V Leiden thrombophilia is the increased tendency to form abnormal blood clots and is commonly characterized by pulmonary emboli and increased risk of miscarriage as well as preeclampsia and placental abruption.