SNP Genotyping Service

Single Nucleotide Polymorphism (SNP) are most common types of genetic variation between members of species. myGenomics provide SNP verification service for high quality validation of variants detected in high throughput Next Gen Sequencing.

The workflow include in silico design of primers for the target amplification, minimal number of PCR amplicons designed to span the desired target sequence, comprehensive resequencing of candidate genomic region using Sanger sequencing.

TaqMan SNP genotyping

For larger sample size or for recurrent requirements, TaqMan Genotyping Assay from Life Technologies is employed. Some of the clinically significant SNP genotyping available form myGenomics include:

Factor V Leiden

Factor V Leiden thrombophilia is the most common hereditary hypercoagulability (prone to clotting) disorder amongst European Caucasians. Studies have found that about 5 percent of Caucasians in North America have factor V Leiden. rs6025 represents a SNP in the Factor V F5 gene, encoding a change in the protein from an arginine at position 506 to a glutamine. The resulting rs6025(A) allele encodes a mutation known as the Leiden mutation, R506Q, found in perhaps 3 to 5% of the individuals in most populations. About 1 in 10 individuals harboring the R506Q will experience clinically significant venous thromboembolism in their lifetimes. For $60/sample, myGenomics can provide a sequencing report indicating whether the persons carrying a mutant form of blood clotting factor V and is more prone to blood clotting.

SNP tested: rs6025- Arg506Gln, R506Q, G1691A

Prothrombin

Prothrombin G20210A (also the prothrombin 20210 mutation, the factor II mutation, or the prothrombin mutation) is a genetic variant that approximately doubles or triples the risk of forming blood clots in the veins. About 2 to 3% of Caucasians carry the variant, and it confers a 2- to 3-fold higher risk of venous thromboembolism (VTE) disease, which includes both deep vein thrombosis and pulmonary embolism. For $60/sample, myGenomics can provide a sequencing report indicating whether the persons carrying a mutant form of blood clotting factor II and is more prone to blood clotting.

SNP tested: rs1799963- Prothrombin G20210A

Apolipoprotein E

Apolipoprotein E (ApoE) is a class of apolipoprotein that is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. ApoE is polymorphic, with three major alleles: ApoE2 (cys112, cys158), ApoE3 (cys112, arg158), and ApoE4 (arg112, arg158). Although these allelic forms differ from each other by only one or two amino acids at positions 112 and 158, these differences alter apoE structure and function. These have physiological consequences.

The e4 version of the APOE gene increases an individual’s risk for developing late-onset Alzheimer disease. People who inherit one copy of the APOE e4 allele have an increased chance of developing the disease; those who inherit two copies of the allele are at even greater risk. The APOE e4 allele may also be associated with an earlier onset of memory loss and other symptoms.

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