The implementation of these protocols ensures that laboratory personnel are trained to follow standardized procedures, reducing the likelihood of human error, and increasing the quality of results. Our Technology Transfer platform workflow is designed to minimize the risk of errors, reduce hands-on processing and increase the accuracy of test results, providing confidence to patients and physicians in making informed decisions with our user-friendly protocols. Our comprehensive testing approach is ideal for laboratories looking to provide a wide range of genetic tests to their healthcare associates and patients. This improves turnaround time and reduces operational costs while ensuring high-quality results with no compromise on accuracy. With our Technology Transfer platform, laboratories can perform multi-disciplinary genetic tests such as NIPT, cardiac, hereditary cancer, carrier screening, and metabolic testing all in a single sequencing run. Medicover Genetics’ technology transfer platform offers comprehensive testing in a single sequencing run, making it a unique and efficient solution for laboratories of any size. Although the test is highly accurate there is still a possibility for false positive or false negative results. The lack of disease-causing variants in the targeted genes diminishes but does not exclude the possibility of a disease associated syndrome. Detection of CNVs using NGS has lower sensitivity/specificity than orthogonal quantification methods, therefore the absence of reported CNVs does not guarantee the absence of CNVs. The test cannot detect CNVs at genomic regions with either low mappability or containing repeats, pseudogenes and high/low GC-content. The test can detect CNVs down to a few exons level resolution. Genomic regions are called as variants if their normalized depth of coverage deviates significantly from the expected normalized coverage which is estimated from a set of reference clinical samples. CNVs are detected for a subset of the targeted regions using a depth of sequencing coverage approach by applying GC-content normalization. Copy Number Variations (CNVs) are calculated using high quality, de-duplicated and uniquely aligned sequencing reads. Certain sequence changes (SNVs and INDELS) in targeted regions containing repeats, sequences of high homology such as segmental duplications and pseudogenes, as well as regions of high/low GC-content may not be detected. Certain types of genetic abnormalities such as inversions, rearrangements, polyploidy and epigenetic effects are not covered by this test. In cases where two variants are identified in a gene, the test does not distinguish whether these are on one chromosome (in cis) or on different chromosomes (in trans). Certain sequence changes (SNVs and INDELS) in non-coding regions of selected genes that are of clinical significance are also included in the analysis. Unless otherwise noted, sequence changes (SNVs and INDELS) in the promoter and other non-coding regions are not covered by this assay. Variants that fall outside of the targeted regions are not intended to be detected by this assay. ![]() ![]() The test aims to detect all variants relevant to the genes listed above by targeting all coding exons, of MANE or/and Canonical transcripts, and 12 bp of adjacent intronic sequence. FH, PH and RAS Kit analyzes 11, 11 and 30 genes and covers Familial Hypercholesterolemia (FH), Pulmonary Hypertension (PH) and RASopathy (RAS) related disorders, respectively.ĪBCA1, ABCG5, ABCG8, APOA5, APOB, APOE, LDLR, LDLRAP1, LIPA, LPL, PCSK9ĪCVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, KCNA5, KCNK3, SMAD4, SMAD9, TBX4ĪKT3, BRAF, CBL, CCND2, EPHB4, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NF2, NRAS, PIK3CA, PIK3R2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, STAMBP
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