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.

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.

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

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.”

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.

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.

The fascinating genetics of FSHD is discussed including diagnosis through whole genome optical mapping in this podcast with host Kira Dineen and guests from the FSHD Society and PerkinElmer Genomics.

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.

Meet Dr. Uzay Gormus as she discusses the services and capabilities of PerkinElmer Genomics Sweden, located in Sollentuna.

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.

Presented at the NSGC annual conference in 2021, join Lora Bean, PhD, FACMG, in discussing how phenotypically driven interpretation reduces non-actionable variants of uncertain significance (VOUS) in clinical reporting and patient management.

Presented by Fen Guo, PhD, on how next-generation sequencing can detect copy number variations (CNV) in panels, exome and genome sequencing, and our CNGnome^® product.

Featuring Ravindra Kolhe, MD, PhD, FCAP from the Medical College of Georgia at Augusta University.

Dr. Madhuri Hegde of PerkinElmer Genomics explores whole-genome sequencing with podcast host Kira Dineen from DNA Today.

Learn more about the clinical utility of dried blood spot technology in clinical genome sequencing, including reduced patient burden and ease of use, with Yang Wang, PhD.

The why is about the who. Patients and providers are at the heart of what we do at PerkinElmer Genomics. Listen to Dr. Madhuri Hedge and our advocacy partners describe how PerkinElmer Genomics helps patients every day with its advanced clinical genomics.

See how our laboratory in Chennai, India is providing state-of-the-art focused exome sequencing for cardiomyopathies, to help patients avoid sudden cardiac arrest and help providers offer optimal clinical care.

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.

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.

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.

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.

Learn about our comprehensive Whole Exome Sequencing assay with dual genome analysis (nuclear and mtDNA) to detect disease-causing variants in clinically relevant gene.

Dr. Madhuri Hegde of PerkinElmer Genomics and Dr. Hong Li of Emory University School of Medicine discuss the use of ultra-rapid whole-genome sequencing in the NICU setting with DNA Today podcast host Kira Dineen.

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.