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Genetic marker services involve the analysis of specific DNA sequences or variations in the genome that are associated with particular traits, diseases, or genetic conditions. Here are some common genetic marker services provided by diagnostic centers and genetic testing laboratories:
SNP genotyping services identify single nucleotide variations in the DNA sequence among individuals. SNPs are the most common type of genetic variation in the human genome and can be associated with susceptibility to diseases, drug response, and other traits.
CNV analysis detects variations in the number of copies of specific genomic regions, ranging from deletions to duplications. CNVs can influence gene expression and are associated with various genetic disorders, including neurodevelopmental disorders, cancer, and rare diseases.
GWAS services analyze genetic variations across the entire genome to identify associations between specific genetic markers and traits or diseases. GWAS have been instrumental in discovering genetic risk factors for complex diseases such as diabetes, cardiovascular disease, and psychiatric disorders.
Haplotype analysis determines the combination of alleles (genetic variants) present on a single chromosome. Haplotypes can provide insights into population genetics, evolutionary relationships, and disease susceptibility.
MSI testing detects alterations in the length of repetitive DNA sequences known as microsatellites. MSI is a hallmark of DNA mismatch repair deficiency and is used in the diagnosis and prognosis of certain cancers, such as colorectal cancer.
Allele-specific PCR is a sensitive technique used to detect specific genetic variants or mutations associated with diseases or drug response. It allows for the selective amplification of target alleles, enabling the identification of rare or low-frequency variants.
WES services sequence the protein-coding regions of the genome (exome) to identify rare genetic variants and mutations underlying Mendelian disorders and other genetic conditions. WES is particularly useful for diagnosing rare diseases with heterogeneous genetic causes.
Targeted gene panel testing focuses on sequencing specific genes or genomic regions associated with particular diseases or traits. Gene panels offer a cost-effective and targeted approach to genetic testing, allowing for the simultaneous analysis of multiple genes relevant to a patient's clinical presentation.
Pathologists and histotechnologists may provide consultation services to clinicians, surgeons, and researchers, offering expert interpretation of histopathology findings, diagnostic opinions, and recommendations for further testing or treatment.
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