STRIVE BIOCORP SERVICES

Exome testing is a specialized form of next-generation sequencing (NGS) that focuses on sequencing the protein-coding regions of the genome, known as the exome. This approach is particularly valuable for identifying genetic variations and mutations that are more likely to be associated with disease, as a significant portion of disease-causing mutations are located within exonic regions. Exome sequencing is a powerful tool for discovering disease-related mutations .

The term "clinical" implies that the clinical exome sequencing sequencing is specifically conducted for clinical purposes, such as diagnosing or understanding genetic disorders in a patient. The analysis and interpretation are often performed with a focus on clinically relevant information.

A comprehensive cardio genomic panel refers to a set of genetic tests specifically focused on assessing an individual's genetic predisposition to cardiovascular conditions.

• Genetic Testing for Familial Hypercholesterolemia (FH)
• Genetic Markers for Arrhythmias
• Genes Associated with Cardiomyopathies
• Thrombophilia Genetic Testing
• Genetic Markers for Aortic Aneurysms and Dissections
• Genetic Risk Assessment for Hypertension
• Genomic Variants Related to Coronary Artery Disease

A hereditary cancer panel, also known as a hereditary cancer gene panel, consists a curated list of genes, that assess an individual's predisposition for a certain type of cancer. Common genes included in hereditary cancer panels may include BRCA1, BRCA2, TP53, PTEN, MLH1, MSH2, MSH6, PMS2, APC, and others, depending on the specific panel and the types of cancers it aims to assess for cancer testing through dna sequencing.

Myeloid disorders are a group of conditions affecting the bone marrow and blood-forming cells, leading to abnormalities in the production of blood cells. Some common myeloid disorders include acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), and myeloproliferative neoplasms (MPNs). Common mutations in myeloid disorders include those in genes such as FLT3, NPM1, TP53, IDH1, IDH2, and others. The genetic testing is performed to identify these mutations.

HLA NGS genetic testing is a powerful tool in various medical contexts, especially in the fields of transplantation and immunogenetics. HLA genes encode proteins involved in the recognition of self and non-self cells, and they are essential for immune responses, including the identification of foreign substances (antigens) and the activation of immune cells.There are three major classes of HLA genes: HLA class I (e.g., HLA-A, HLA-B, HLA-C), HLA class II (e.g., HLA-DR, HLA-DP, HLA-DQ), and HLA class III.

The BRCA1 and BRCA2 NGS (Next-Generation DNA sequencing) test is a genetic test that analyzes the DNA of an individual for mutations in the BRCA1 and BRCA2 genes. These genes are associated with an increased risk of developing breast and ovarian cancers, as well as other types of cancer. Mutations in BRCA1 and BRCA2 are known to be hereditary and are linked to hereditary breast and ovarian cancer syndrome (HBOC)

The BRCA1 and BRCA2 CNV (Copy Number Variation) NGS (Next-Generation DNA sequencing ) test is an advanced genetic test that not only examines the DNA sequence of the BRCA1 and BRCA2 genes for point mutations but also assesses for the presence of large genomic alterations, such as deletions or duplications, within these genes. Copy number variations can lead to the loss or gain of genetic material, and when they occur in cancer-related genes like BRCA1 and BRCA2, they can increase the risk of developi

Non-Invasive Prenatal Testing (NIPT) is a modern and advanced method for assessing the risk of certain chromosomal abnormalities in a developing fetus. NIPT is a screening test that analyzes cell-free DNA (cfDNA) from the mother's blood to provide information about the fetal DNA.NIPT with NGS dna sequencing primarily screens for common chromosomal abnormalities, such as trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), and certain sex chromosome abnormalities.

Y chromosome microdeletion testing is  typically recommended for men with certain reproductive issues, such as azoospermia (absence of sperm) or severe oligospermia (very low sperm count). The genetic testing helps assess the genetic factors contributing to male infertility. The regions on the Y chromosome that are commonly evaluated in this testing are referred to as AZF (Azoospermia Factor) regions, including AZFa, AZFb, and AZFc.

It's important to note that genetic testing for deafness is typically recommended in cases where there is a strong suspicion of a genetic component to the hearing loss, especially when other known causes (such as environmental factors or infections) have been ruled out.

FMR1 (Fragile X Mental Retardation 1) is a gene located on the X chromosome and mutations in this gene can lead to Fragile X syndrome, which is a genetic disorder associated with intellectual and developmental disabilities. DNA sequencing can is used for detecting mutations or expansions of the FMR1 gene.

SMN1 (Survival Motor Neuron 1) is a gene associated with spinal muscular atrophy (SMA), a genetic disorder that affects motor neurons in the spinal cord and leads to muscle weakness and atrophy. Detecting mutations or variations in the SMN1 gene using Sanger DNA sequencing is an important diagnostic approach for SMA.

Sanger DNA sequencing can be used for chimerism detection, particularly in the context of organ transplantation and hematopoietic stem cell transplantation. Chimerism refers to the presence of two genetically distinct cell populations within an individual's body, often resulting from a transplant of cells or tissues from a donor. Detecting chimerism is crucial for monitoring the success of transplantation and assessing the risk of graft rejection or graft-versus-host disease (GVHD).

MLPA is a simple, multiplex PCR dna sequencing technique that uses a single primer pair to amplify up to 60 probes, each with a unique genomic target and length. PCR amplicons are fluorescently labelled and separated and quantified by capillary electrophoresis. By comparing the resulting peak pattern of a sample to those of a set of reference samples, the number of genomic targets present in the sample of interest can be determined.

Using QF-PCR (Quantitative Fluorescence-Polymerase Chain Reaction), aneuploidy genetic testing (accurate detection of Down syndrome (Trisomy 21), Edward syndrome (Trisomy 18), Patau syndrome (Trisomy 13), )on Sanger Sequence (CE) have a number of advantages over other cytogenetic techniques suitable for both chorionic villus and amniotic fluid analysis.

Maternal cell contamination (MCC) in genetic testing refers to the presence of maternal DNA in a sample that is supposed to contain only fetal DNA. This is particularly relevant in prenatal testing scenarios where the goal is to analyze the genetic material of the developing fetus.

Microsatellite instability (MSI) is a molecular phenotype that is often associated with certain types of cancer, including colorectal cancer. MSI genetic testing is characterized by changes in the length of microsatellite repeat sequences within the genome, resulting from DNA replication errors. Detection of MSI is important for cancer diagnosis and prognosis, as it can influence treatment decisions and patient outcomes.  Sanger sequencing is used to detect MSI by analyzing the length of microsatellite repeat s

CYP2C19 Sanger DNA sequencing is a molecular genetic technique used to analyze the DNA sequence of the CYP2C19 gene. The CYP2C19 gene encodes an enzyme that is involved in the metabolism of various drugs, including certain medications used to treat cardiovascular conditions and psychiatric disorders.

The MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase) and MTHFR (methylenetetrahydrofolate reductase) genes are involved in the metabolism of folate, a B-vitamin essential for various cellular processes, including DNA synthesis and methylation. Variations in these genes can affect folate metabolism and have implications for health, including potential impacts on pregnancy, neural tube defects, and cardiovascular health.The dna sequencing can help in genetic testing of these targets involved in metabolic pathway.

Digital PCR Noninvasive prenatal testing (NIPT) is a genetic testing method to assess the risk that the fetus will be born with certain genetic abnormalities. Most common NIPT is for aneuploidy of a chromosome which is caused by the presence of an extra or missing copy of a chromosome. The test primarily looks for Down syndrome (trisomy 21), Edwards Syndrome (trisomy 18), and Patau Syndrome (trisomy 13). The test also provides fetal fraction determination.

EGFR Digital PCR Multiplex Mutation Screening Kit identifies possible 63 mutation sites in a single well in a rapid and cost-effective manner, including G719X, Ex19Del, S768I, Ex20Ins, T790M, L858R and L861Q mutation groups.

Digital PCR CRC mutation screening kit identifies 136 possible mutation sites in four wells in a rapid and cost-effective manner, including KRAS, NRAS, PIK3CA, and BRAF gene mutation groups. 

Digital PCR Lung Cancer Mutation Screening Kit is designed to identify possible 99 mutation sites in two wells in a rapid and cost-effective manner, including EGFR, KRAS, BRAF, HER2, and MET gene mutation groups.

HCV RT-PCR testing is crucial in managing Hepatitis C infections, as it provides information about the viral load, which is a key factor in understanding the severity of the infection and monitoring response to antiviral treatment. Regular monitoring of HCV viral load is often recommended for individuals undergoing antiviral therapy.

HBV RT-PCR testing is particularly important in managing Hepatitis B infections, as it provides information about the viral load, which is a key factor in understanding the severity of the infection and monitoring response to antiviral treatment. Regular monitoring of HBV viral load is often recommended for individuals undergoing antiviral therapy

COVID-19 Real-Time Polymerase Chain Reaction (RT-PCR) testing is a widely used diagnostic method for detecting the presence of the SARS-CoV-2 virus, which is responsible for causing COVID-19. RT-PCR is a molecular diagnostic technique that amplifies and analyzes the viral RNA to determine whether an individual is infected with the virus.

A Respiratory Panel Real-Time PCR is a molecular diagnostic test that utilizes Real-Time Polymerase Chain Reaction (PCR) technology to detect and identify various respiratory pathogens. This type of test is commonly used in clinical settings to diagnose respiratory infections, especially those caused by viruses and bacteria.- influenza viruses, respiratory syncytial virus (RSV), human metapneumovirus (hMPV), adenovirus, rhinovirus, enterovirus, coronaviruses, and certain bacteria like Mycoplasma

BCR-ABL Real-Time PCR (polymerase chain reaction) is a molecular diagnostic technique used to detect and quantify the presence of the BCR-ABL fusion gene, which is associated with certain types of leukemia, particularly chronic myeloid leukemia (CML) and a subset of acute lymphoblastic leukemia (ALL).