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Poster Icon   Scientific Poster
Reducing The Time To Diagnosis For Spinal Muscular Atrophy
This poster sheds lights on qPCR assay for population-based newborn screening for SMA, bioinformatic analysis of WGS data for identification of SMA patients (SMN1=0) and SMN1 carrier statues, fragment analysis and MLPA for confirmation and diagnostic testing for determination of SMN1/2 copy numbers. The combination of above assays reduce the time to diagnosis of SMA.
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Sample Collection Instructions_French
Instructions for Blood sample collection via Venipuncture, Heel stick, Finger prick.
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Mosaicism, De Novo Occurrence and Subclinical Parents: Lessons Learned From Two-Year ABCD1 Second-Tier Confirmatory Testing
Second-tier confirmatory NBS testing of ABCD1 is essential to identify and ascertain affected individuals with positive VLCFA accumulation. The molecular confirmatory data will be helpful in assessing the NBS biochemical cut-off values for calling positive result.
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Direct Effects of Inbreeding: Increased Burden of Rare Genetic Disorders in Indian Sub-continent
These case studies shows that the data provides evidence that genomic screening for genetic diseases before planning a baby or at least in the first trimester of pregnancy, helps the families to reduce the chance of giving birth to a child with rare genetic conditions, and also reduce the burden on health system of the country. Increased homozygosity in the Indian sub-continent clearly demonstrates the immediate need for carrier testing in Indian sub-continent.
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Fascioscapulohumeral Muscular Dystrophy Genetic Testing by Optic Mapping
Optical mapping offers a promising alternative method for FSHD diagnostic testing due to lower DNA input needed for analysis and lack of radiation. Combined with next generation sequencing (NGS) technology to detect the sequence and copy number variants in SMCHD1 or DNMT3B, and genes associated with neuromuscular disorders, comprehensive neuromuscular disorder testing including FSHD can be an option for providers to test patients with undiagnosed neuromuscular diseases.
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Utility of Metabolomics Screening in Familial Hypercholesterolemia in Combination with Genetic Diagnosis
This study shows that comprehensive metabolomic profiling can be useful in discriminating FH from lifestyle dyslipidemia or polygenic forms of hypercholesterolemia.
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Global Approach to Prenatal Testing
This poster highlights the importance of proband testing and subsequent parental testing prior to the testing of the prenatal sample. Advancement in sequencing technology and carrier testing options to prospective parents help in reducing the incidence of disease and anxiety. Recommendation of Pretest and posttest genetic counseling should be offered to every prospective parent undergoing prenatal diagnosis and educating the physicians for a quality service.
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Towards Implementation Whole Genome Sequencing as a First Tier Test in Genomic Testing
The advancement of technology and bioinformatics as well as decline in cost, WGS is moving to the direction of replacing most of the other sequencing tests in the laboratories and becomes a one-time genetic test that would provide the basis for lifelong follow-up. The differences would be the set of genes analyzed appropriate to the specific clinical indications and requests.
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Testing reportedly healthy individuals for a panel of 59 medically actionably genes: are 59 genes enough?
Importance of new gene discovery and the improved understanding of disease inheritance,consider guidelines around exome/genome sequencing in the healthy population revealed 59 medically actionable variants.
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High diagnostic yield from clinical genome sequencing supports genome sequencing as the first-tier genetic test: Evidence-based from 2100 index cases
The diagnostic yield in our cohort is around 28% overall, with 37% in the infant group; Around 31% of Cases with previous genetic testing performed yielding diagnosis post-GS further support the clinical utility of using GS as the first-tier genetic test; Besides the diagnostic cases, an additional 27% of cases carried the variant(s) of unknown significance which are identified in a previously established disease gene that could explain the patient's phenotype.
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Genetic basis of Oculopharyngeal Muscular Dystrophy: Detection of Alanine repeats in PABPN1 gene by Next Generation Sequencing
Revvity's NGS is capable of identifying GCN repeat allele was identified in making definitive diagnosis of OPMD like Autosomal Dominant , recessive and further more, very helpful to conduct further genotype-phenotype correlation studies specifically to observe correlation between alanine repeat length with age of onset, disease severity and progression.
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Non-Invasive Prenatal Screening by Vanadis LifeCycle® Platform
Highlights on Vanadis® cfDNA Platform for Detection of T13, T18 and T21 and Sex Chromosome Abnormalities.
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