Busting the Top 10 Myths about Genetic Testing
Even though genetic tests are more available and affordable than ever, many patients and physicians still have misconceptions about them.
Now, we talk with two certified genetic counselors at PerkinElmer Genomics to bust the top ten myths about genetic testing. Teresa Blake, MS, CGC, LGC is the director of scientific and commercial operations and works to provide a better customer experience both in the US and globally. Erin Shehan, MS, CGC, a genomic testing consultant, works with physicians and patients to facilitate their diagnostic journey.
How the Clinical Reporting Team is the New Sherlock Holmes in Genomics: Part 2
When a rare genetic disease diagnosis is a mystery, how do you crack the case? For some, the first step toward care, treatment, and possible therapies is finding a dual diagnosis. Listen to part 2 of our series on the laboratory clinical reporting team and its work in uncovering these special cases.
Phenotypically-Driven Clinical Results with Dr. Lora Bean
Dr. Lora Bean gives an overview of phenotypically driven clinical results in this episode of DNA Today! On this episode we discuss:
- Differences between gene panels, exome, and genome sequencing
- Adapting workflows from exome to genome utilizing existing frameworks
- Advantages of different types of testing
- Limiting the floodgates of variants that inevitably come with whole genome sequencing
- Helpful information for providers to include with specimens to guide the laboratory when the data are analyzed
- The role of phenotypic data specifically in classification of sequence variants
- Deep intronic variants
How the Clinical Reporting Team is the New Sherlock Holmes in Genomics: Part 1
When a rare genetic disease diagnosis is a mystery, how do you crack the case? In part 1 of this podcast series, Dr. Christin Collins shares the clinical reporting team’s take on leaving no stone unturned for patients. “We’re able to work with the providers to give them suggestions on what next steps would be appropriate or what would help them get to the eventual answer that they need.”
Moving Beyond Whole Genome Sequencing
Dr. Madhuri Hegde, SVP and CSO, discusses how multiomics is the future of biological analysis and how PerkinElmer Genomics is moving beyond whole genome sequencing to offer an all-in-one test that not only analyzes and sequences the genome but also includes functional and biochemical testing. By delivering results based on more data than ever before, healthcare providers are equipped with the best possible answers to guide and customize patient care.
Interview with leading experts on muscular dystrophy and genetic testing
An insightful and thoughtful discussion with Ann Martin, a certified genetic counselor and the Vice President of Community Research and Genetic Services at PPMD; Erin Shehan, also a genetic counselor and a Genomic Testing Consultant at PerkinElmer Genomics; and Bret Stetka, MD, on the hope persons with muscular dystrophy now have due to genetic testing and the new therapies and treatments now available.
Screening and Diagnostic Solutions
Learn about the comprehensive services provided by PerkinElmer Genomics’ Chennai, India location. Testing includes biochemical genetics, cytogenetics, and molecular genetics for various patients, including pregnant women, newborn babies, children, and adults. Our goal is to advance testing so that providers can deliver exceptional care and have healthier patients.
Maximizing Diagnostic Yield When It’s Needed Most – Ultrarapid Genome Sequencing in Newborns
Ultrarapid genome sequencing is steadily gaining adoption as a first-tier diagnostic test in the neonatal population. Join Madhuri Hegde, PhD, FACMG, in examining how PerkinElmer Genomics leverages dried blood spot (DBS) sampling to provide meaningful results in only five days.
Learn more about Brugada syndrome (BrS)
BrS is an abnormality of the heart rhythm leading to ventricular fibrillation. With 1 in 2,000 people affected worldwide, it is responsible for up to 20% of sudden cardiac deaths. Clinical guidelines recommend genetic testing for clinically diagnosed and at-risk family members. PerkinElmer Genomics offers a robust cardiology testing menu, with this video focusing on our services in India.
Learn more about Long QT Syndrome (LQTS)
LQTS is a heart condition with an abnormal ECG, causing tachyarrhythmia followed by fainting or cardiac arrest. LQTS may be congenital or acquired. Learn about the testing offered by PerkinElmer Genomics, with this video focusing on services provided by our India laboratory.
Podcast | urWGS for critically ill infants and prenatal WGS and WES for complicated pregnancies
Pre- and post-natal genomic testing can now give families and doctors invaluable insights into their children’s future health, which can be crucial in getting them on early treatment and improving their chances of managing inherited conditions. Listen to this interview with Dr. Madhuri Hegde, SVP and CSO, discussing how PerkinElmer Genomics is at the forefront of developing and distributing ultrarapid genomic testing for critically ill infants and STAT prenatal genomic testing for complicated pregnancies.
Novel X chromosomal abnormalities: case studies
In this 30-minute webinar, Dr. Naga Guruju, Clinical Laboratory Director at PerkinElmer Genomics, will review his experience with NxClinical software and how enabling comprehensive CNV detection, analysis, and interpretation from NGS capture-based panels and WES allowed his team to efficiently solve a complex case of a Becker muscular dystrophy in a combination with Klinefelter syndrome and a unique case of sex reversal due to an unbalanced translocation between X and Y chromosomes.
Genome vs Exome Sequencing: Everything You Should Know!
In this 60-minute webinar, Dr. Fen Guo, Clinical Laboratory Director at PerkinElmer Genomics, will review the fundamental difference between Exome and Genome sequencing and demonstrates the technical superiority of genome sequencing over exome sequencing through case studies.