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Ambry Genetics
United States
Registrace 29. 03. 2011
The CARE Program Provider Experience
UnityPoint's Experience with the CARE Program by Ambry Genetics - helping identify high risk cancer patients for informed care. Visit www.Ambrygen.com for more.
zhlédnutí: 400
Video
Cardiovascular Genetic Testing: Incorporating & Applying Results by Erin Miller and Amy Sturm
zhlédnutí 705Před 2 lety
Cardiovascular Genetic Testing: Incorporating & Applying Results by Erin Miller and Amy Sturm
The Intricacies of Splicing & RNA Data in Germline Variant Classification | Webinar | Ambry Genetics
zhlédnutí 1KPřed 2 lety
For more information about genetic testing, visit www.ambrygen.com The expanding availability of RNA functional data has had a major impact on variant assessment. This presentation will review RNA splicing and its impact on protein function and disease. Dr. Zimmermann will highlight the complexities underlying the interpretation of RNA data and review how RNA impacts germline variant classifica...
Understanding COVID Testing and Prevention: View from a PCP | Webinar | Ambry Genetics
zhlédnutí 228Před 2 lety
COVID is a pandemic for the ages that is disrupting every aspect of society and has claimed almost 2 million lives. In this session, a practicing internist at a Harvard teaching hospital discusses COVID testing and vaccines and will answer questions about his experiences with COVID in the real world. Presenter: Danny Sands, MD, MPH Assistant Clinical Professor of Medicine, Harvard Medical Schoo...
Evaluating the Family After Sudden Death in the Young
zhlédnutí 370Před 2 lety
Understand the importance of postmortem genetic testing and the evaluation of other surviving family members after a sudden cardiac death. Identify the pathology and causes of sudden cardiac death in the young. Michael J. Ackerman, M.D., Ph.D. | Presenter Mary Sheppard, MD, FRCPath | Presenter Mary Hardies, RN | Presenter Jessica Gage, MS, CGC | Moderator Michael J. Ackerman, M.D., Ph.D., genet...
Fostering Change: ACMG’s New Diversity, Equity and Inclusion Committee | Webinar | Ambry Genetics
zhlédnutí 144Před 2 lety
This talk will introduce the new Diversity, Equity and Inclusion (DEI) Committee of the American College of Medical Genetics (ACMG) and discuss the need to increase diversity among ACMG members. While ACMG currently offers activities specifically for minority students, the DEI seeks to increase participation in these activities and ensure that trained geneticists are available as mentors for th...
Exome Sequencing for Prenatal Indications | Webinar | Ambry Genetics
zhlédnutí 864Před 2 lety
This seminar will focus on updating the audience on recent publications in the prenatal exome sequencing space, including the points to consider for prenatal exome sequencing from ACMG published this year. The technical challenges and diagnostic considerations of performing exome sequencing for fetal indications will be reviewed. This session will also cover diagnostic rates by indication type,...
Race, Ethnicity, and Clinical Utility in Cancer Genetics | Webinar | Ambry Genetics
zhlédnutí 953Před 3 lety
For more information about genetic testing, visit www.ambrygen.com In this EducateNext, Ms. LaDuca will present detailed results from a recent study exploring racial and ethnic differences in cancer genetic testing results for women with breast cancer. Results from this study and others will be used to highlight opportunities to improve the utility of genetic testing in populations facing healt...
Genetic Testing for Prostate Cancer: Advances and Considerations | Webinar | Ambry Genetics
zhlédnutí 1,8KPřed 3 lety
For more information on genetic testing, visit www.ambrygen.com Germline testing for prostate cancer is becoming central to cancer care. Multiple genes predict risk for prostate cancer to varying degrees, and several are now crucial to candidacy for precision therapies for men with metastatic prostate cancer. Across the stage and risk spectrum, germline testing is relevant for informing heredit...
Quality in Genetic Testing Laboratories: Opening the Black Box | Webinar | Ambry Genetics
zhlédnutí 1,4KPřed 3 lety
For more information about genetic testing, visit www.ambrygen.com Adoption of next generation sequencing (NGS) panel testing has allowed for simultaneous testing of multiple genetic causes and decreased the cost of genetic testing. Technical standards for diagnostic gene sequencing panels have been developed by the American College of Medical Genetics (ACMG) to promote best practices in panel ...
Leveraging Innovation to Improve the Identification of Patients with Hereditary Cancer
zhlédnutí 541Před 3 lety
In this session, we will demonstrate how technical advancements, specifically RNA genetic testing, improves the diagnostic yield of hereditary cancer panel testing, by reviewing current data and highlighting specific case examples. We will also describe the benefits of an end-to-end solution which leverages chatbot technologies to systematically distribute a risk assessment questionnaire, ident...
Diagnosis, Management, and Genetics of hATTR Amyloidosis | Webinar | Ambry Genetics
zhlédnutí 1,5KPřed 3 lety
For more information on genetic testing, visit www.ambrygen.com In this webinar, you will learn how to: Master the nomenclature used to identify the varying forms of amyloidosis Discuss the various types of amyloidosis and distinguish wild-type TTR from mutant type TTR Compare the clinical presentations seen with the various forms of amyloidosis and how they lead to patient's symptoms Demonstra...
Improvements in Clinical Interpretation of Copy Number Variants CNVs | Webinar | Ambry Genetics
zhlédnutí 1,7KPřed 3 lety
For more information on genetic testing, visit www.ambrygen.com Copy number variant (CNV) detection has been part of clinical diagnostics for almost 2 decades. With the continuous evolution of genomic technologies for CNV detection, we have learned that CNVs can range in size from tens of bases to megabases, and are an important source of both normal and pathogenic genomic variation. CNV interp...
Homologous Recombination Deficient Diagnosis and PARP Inhibitor Therapy | Webinar | Ambry Genetics
zhlédnutí 4,8KPřed 3 lety
This webinar will introduce the audience to the role of genomic instability in cancer development and progression and how inherited cancers fit into this view. Specifically, we will learn how loss of function in BRCA1, BRCA2, and related genes contribute to genomic instability and how that phenotype can drive acquisition of cancer hallmarks. Loss of function in BRCA1 or BRCA2 are associated wit...
Saliva Kit Instructional Video | Ambry Genetics
zhlédnutí 13KPřed 3 lety
Welcome to Ambry Genetics' instructional video on how to submit a saliva sample for genetic testing, which was ordered by your healthcare provider. Before submitting your saliva sample, please be sure to not eat, drink, smoke, or chew gum for 30 minutes. This video will walk you step-by-step through the process of collecting and sending your sample back to Ambry Genetics. If you have any questi...
Genetic Testing in Adult Neurology Patients | Webinar | Ambry Genetics
zhlédnutí 780Před 3 lety
Genetic Testing in Adult Neurology Patients | Webinar | Ambry Genetics
Integrating Functional Studies into Variant Interpretation | Webinar | Ambry Genetics
zhlédnutí 934Před 3 lety
Integrating Functional Studies into Variant Interpretation | Webinar | Ambry Genetics
Exome Sequencing for Congenital Anomalies or Neurodevelopmental Disorders | Webinar | Ambry Genetics
zhlédnutí 1,7KPřed 3 lety
Exome Sequencing for Congenital Anomalies or Neurodevelopmental Disorders | Webinar | Ambry Genetics
+RNAinsight: A Year in Review | Ambry Genetics
zhlédnutí 295Před 3 lety
RNAinsight: A Year in Review | Ambry Genetics
Opportunistic Screening for Medically Actionable Secondary Genomic Findings | Ambry Genetics
zhlédnutí 201Před 3 lety
Opportunistic Screening for Medically Actionable Secondary Genomic Findings | Ambry Genetics
Study Finds Key Predictors of Positive Genetic Test Results in Men with Prostate Cancer
zhlédnutí 107Před 3 lety
Study Finds Key Predictors of Positive Genetic Test Results in Men with Prostate Cancer
Navigating Transitions Between Telehealth and In Person Clinic | Webinar | Ambry Genetics
zhlédnutí 110Před 3 lety
Navigating Transitions Between Telehealth and In Person Clinic | Webinar | Ambry Genetics
Genetic Testing Results on Clinical Management for Lipid Patients | Webinar | Ambry Genetics
zhlédnutí 400Před 3 lety
Genetic Testing Results on Clinical Management for Lipid Patients | Webinar | Ambry Genetics
Foundations in Compliance for Molecular Genetic Testing Laboratories | Webinar | Ambry Genetics
zhlédnutí 360Před 4 lety
Foundations in Compliance for Molecular Genetic Testing Laboratories | Webinar | Ambry Genetics
Illumina Sequencing Overview: Library Prep to Data Analysis | Webinar | Ambry Genetics
zhlédnutí 177KPřed 4 lety
Illumina Sequencing Overview: Library Prep to Data Analysis | Webinar | Ambry Genetics
Using Structural Biology to Support Variant Assessment | Webinar | Ambry Genetics
zhlédnutí 511Před 4 lety
Using Structural Biology to Support Variant Assessment | Webinar | Ambry Genetics
How Can Clinical Validity Assessment of Gene Disease Associations Aid in Variant Classification?
zhlédnutí 320Před 4 lety
How Can Clinical Validity Assessment of Gene Disease Associations Aid in Variant Classification?
Prostate Cancer Genetic Risk Assessment | Webinar | Ambry Genetics
zhlédnutí 671Před 4 lety
Prostate Cancer Genetic Risk Assessment | Webinar | Ambry Genetics
New Directions in Access to Genetic Counseling Information for Precision Medicine | Webinar
zhlédnutí 395Před 4 lety
New Directions in Access to Genetic Counseling Information for Precision Medicine | Webinar
Virtually There: Transitioning Your Genetics Clinic to Telehealth Quickly | Webinar | Ambry Genetics
zhlédnutí 192Před 4 lety
Virtually There: Transitioning Your Genetics Clinic to Telehealth Quickly | Webinar | Ambry Genetics
Listening in 2024... Still trying to understand my son's sudden death. Although not young, he was 50 years old. Wasn't complaining of anything in particular. Waved goodbye to someone at work, got in the elevator, and was found just outside the elevator where he apparently just collapsed. Unfortunately, they didn't find him till 9 hours later. The coroner's office said they do not do genetic testing, and also do not allow any material to be sent outside their lab even if I offer to pay for it. Autopsy showed evidence of hypertension and cardiac disease, but in my mind, having evidence of that would not be a reason for sudden death. Trying to consider if I should challenge some of their findings. Thank you for this posting. It was informative.
90% of cancer are hereditary.....you so called brilliant people making fool to all world because everyone will choose right partner to marry this is the main reason.
Hi, now dnm1 gene treatment available?
Every disease can be predicted by whole genome sequence + whole exome sequence + correct data analysis
9p 80m 9]0G$
I've had these since ages 10. Used to have 1-2 a month and now at 36 I get about 3 a year
Dnm1 mutation any trails going?
Bullshit... Wasted my time
Fantastic! Thanks a lot!
I have a Text-To-Speech app on my phone for when I cannot speak. I have the ATP1a2 mutation, and the position of the mutation is undocumented (not the typical position). I also have DEE and myoclonic epilepsy
"May" increase the chance with it and still can get it without. Where the hell did you get this from
This is life changing information! I’ve dealt with this type of migraine for over 40 years. My family decided that I was demon possessed, and doctors convinced my x-husband that it was a mental disorder. I can’t believe, I’ve found the answer. I’m absolutely socked by this information, thank you so much for sharing.
My story is pretty much the same. I only got answers when I got a genetic test and was positive for the ATP1a2 mutation
Where is the info about exome sequencing ?
My daughter just got diagnosed with this. She is scared beyond belief of the symptoms and freaking out right now. I’m concerned for her and researching as much of this as I can to find a way to ease her suffering dealing with this illness. My mom had it but we never knew this was what it was the whole time until my daughter started having really bad occurrences of it recently as she was diagnosed. I have 3 children and so far one which is my oldest child and daughter is now battling this illness in her early 30’s. My mom had it in her 40’s. Don’t know if my 2 young sons will have it or not. I’m just beside myself right now on what the future holds for them all. Thank God there is more research on this now then there was over20 years go when my mother had it. Hopefully it can help my daughter fight this illness now. It breaks my heart to see my healthy child break down with such a serious illness like this out of no where while she was attending college to be a chef. Her whole world came crashing down. And momma can’t do nothing about it to help her. So sad inside but we gonna keep doing our research and keep looking for ways to help her cope with it and see if we can find some treatments to help her manage it now. Thank you for the video, I’m going to pass it on to her!! God bless you and yours.
I have had these since puberty and I’m now 26. My brother is 21 and just starting to get them. They are hard on me and my brain. I had to quit sports and band because of the damage it caused to my memory and reflexes. They are less frequent now and for my mom, they went away by 30 years old.
stupid, dont call the video exome sequencing
Ok this is great! But what is exome sequencing?
Illumina tech is so old and complicated. Yeast literally does sequencing by synthesis on nanograms of sugar.
Both grandfather's had cancer. So... chance?
sus ***
Mutyh g>c was found in a 65 y o Indian woman with hr+ her2- early t1c breast ca, she had triple - variety 25 yrs prior to this in the other breast. A heterozygous variation c.1102G>C in the exon 12 of the MUTYH gene was identified.
Is T-Cell acute lymphoblastic leukemia hereditary or not???
how is cluster density quantified? I know it is given in units of K/mm2. How are the clusters detected initially before SBS starts?
I was 26 years old in 1993 when my intestinal bleeding led to a diagnosis of colon cancer. Five months later the doctors at the Saint Louis Veterans Hospital asked Dr Gardner to come consult on my case because I had growths the whole length of my large intestine. I was diagnosed with Gardner Syndrome. In 1994 I underwent the 27 hour surgery to remove my large intestine and getting the J pouch. I had the dreaded ileostomy bag for two years. Sadly I do not remember any of the doctors telling me that I will pass on the defected gene to offspring. After 4.5 years in the hospital and the loss of 153 pounds. I meet a lass and we married and had two boys. Our oldest at age 12 in 2013 and our youngest at age 11 in 2020 both started bloody stools that led to the doctors finding out they had colon cancer and they as well now have J pouches. It is nearly impossible as an adult to find a doctor who knows about Gardner Syndrome. It is IMPOSIBLE to find a child doctor who does. Adding two growths in our sons bile duct makes finding any doctor who knows what to do now has been impossible. So it is just the normal 6 mo scopes to check growth. I do wish there was such a thing as a talk group but our sons Physiatrists do not know of one and the veterans Administration tells me I am the only veteran with it so no talk group. I applaud your facing it head on attitude. Our family (my wife, me and our two boys) have adopted a laughing at it to cope. Their continued intestinal bleeding and abdominal pain when they try to be active limits any desire for that.
So if my paralysis doesnt improve even after several weeks does it mean its permanently damaged?
You expect me to believe that suntanning causes cancer? You’re telling me that something as natural as spending time in the sun, the oldest past time known to man causes cancer? Lolol
We know you’re not going to truthfully tell us what the root cause of cancer is. Because if you told us the root cause of cancer, it would be painfully clear how one percent cancer by the means Inc. thing and sees that are driving mutations. Oh, not financial Pharma so all your left bullshit. So you lie as people die
bad
Absolutely wonderful! Thank you for putting together and simplifying all the information
I need someone or group to talk to. Help
Does anyone know how only the reverse strands are removed from flow cell?
I would assume with a specific restrictionenzyme
My son just got diagnosed with FAP this week. He is only 15 months old. This video was helpful and hopeful. I hope you are doing well.
I was diagnosed by a headache/migraine Neurologist with having Hemiplegic migraine 2 years ago after having to attend the ED of a hospital a couple of times for what they thought was a Stroke or a T.I.A. Just last year alone I was hospitalized up to 7 times with HM attacks where at one time I was paralysed from the waist down so was unable to walk and had limited sensory abilities. I am currently being treated with Sodium Valproate which has been helping me manage the symptoms and the attacks have decreased from 12 or more a month down to 2,the effects of HM have been extremely debilitating and have led me to have CPR due to me stopping breathing twice last year. Thank you for making this awareness video as I feel it will help so many who are also battling this horrible neurological disease. I do know that mine are related to the prrt2 Hemiplegic migraine attacks as I have the 16p11.2 chromosome duplication confirmed by a genetics counsellor.
I'm right here with you.. I waited a Lil too long thanks to my step dad for not taking my health serious.. thankfully I'm still alive
Thank you it is excellent webinar, I wonder if PDF s available?
My mom, my aunt, my grandmother all had cancer.
good luck we missed you
excellent
Thank you Doc.
My echocardiogram showed a enlarged left chamber and my calcium score was 1140 so I had a heart catheterization and no blockage and my ECG showed heart failure I have diabetes and very high blood pressure and CVI in my legs stage 5 that what a vascular surgeon said and diabetic neuropathy in my legs which makes it very hard to walk would I be considered having genetic heart failure or chronic heart failure my cardiologist has on my medical records as chronic 'congestive'heart failure
The inherited cerebral small vessel disease CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) should be considered as well, especially if these FHMs persist into early adolescence or do not even begin until young adulthood. Migraines (with or without aura) are a significant symptom (often the presenting symptom) of many people with CADASIL. I had regular FHMs for about 23 years, lasting from a couple of days to a couple of weeks. Left-sided parasthesia (partial or complete) were a feature of almost all of them. I've had all the symptoms you described, at some time or another, and not necessarily together. Seven years after my migraines began, I was diagnosed with CADASIL (my mother had been diagnosed six years before me). Thanks for sharing your lived experience - it provides important insights to others with FHM and, perhaps more importantly, for their relatives and friends who don't understand the condition, some of whom may be dismissive and play down its impact on our lives. And I love the mosquito versus shark comparison!
Fantastic overview of genetic testing!
Brilliant - LOADS of information in a short time. Of course there is new data now but still really love how you presented the facts about PARPi treatment and MoA!
I wasin the snowboard industry in the early 90's in NZ, that's were was also diagnosed. I have a had a total colectomy 6 years ago now for A. F. A. P, lots of polyps in stomach thyroid shot but still want go on adventures.
Informative, thanks!
End of may I went to the ER with stroke symptoms ever since I’d have stretches I’d get better then barely can walk. In that time I’d have a migraine a week. Was diagnosed with this today
Do you provide testing kits that can be sent to the UK, please?
Travis.. You are so strong. I am very inspired by your story!
Meeting Dr Igudia CZcams channel was the beginning of a new life for me after using his herbs medication in curing my type 2 diabetes disease completely
Hi guys do you know any online forum or community group for people with hemiplegic migraine?
Thank you so much for sharing this! I am a sufferer too and it’s so good to have it explained properly like this. Also to know I’m not on my own with this xx
It's very new and difficult for me. But after watching this video, I'm clearly understand. Thank you very much.
If I were a Vaxxer, I’d be really concerned with what has happened to countless other Vaxxers: Christopher Stalford, (photographer) Chris Coulter, Jamal Edwards, Gaia Young, Michelle Hayes, Jordan Robinson, Cameran Wheatley, Lucy Taberer, Ernesto Ramirez Jr, Leah Carolan, Dr. Paul Farmer, Founder Of Partners In Health, Jamie A. (Knox) Bouchard, Katie Novak, Kevin Gregory, Madison High principal David Robinson, Conall McGuiness, Autumn Tennison, 21… RIP. Betsy Castle (elementary school principal), (college student) Heather Marie Rotz, Paula Cohen-Martin (author), coach Stephen Spitzer, Sandra Clifford, teacher Cathy Malgieri, Labour MP Jack Dromey, Preston Settles, Tobiloba Taiwo, Javier Silva-Biotti, Daniel Perkins age 36, Alice Koh, Christopher Cowe 15 yrs old, Victorian Labor Senator Kimberley Kitching, Calvin Middleton, Knoxville teacher Eric Robertson, Shane Warne (cricket player), Dr. SarahBeth Hartlage, Senior Australian investment banker Chris Forman aged 48, makeup artist AJ Crimson age 27, pharmacy owner Lakeram ‘Mike’ Singh, Kelly Ellis age 33, European Parliament President David Sassoli, technologist Erin Julia Beebe age 26, History teacher Morar Ashburner, Megan Reid, 17.… RIP. Essex high school student Ryan Heffernan, age 12, Firefighter Kenneth Enright, footballer Red Og Murphy age 21, officer Joseph Kabungo, Kim Lockwood 34, Kasey Turner 18, Rugby player Maddy Lawrence 20 yrs old, footballer Christian Eriksen, footballer Sergio Aguero age 33, John Paul Viggiano 45, Mary Jane Thomas, director Uwe Bohm 60, 14 yr old Aaron Vasquez, Peter O’Hagan 18 yrs, Stuart Page 57, … RIP Scottish parliament official David Hill, Irish UN Jim Kelly, 16-year-old Welsh football player Elgan Jones, cyclist Tomas Walsh 43, cyclist Andrew Oliver 36, Edinburgh dad Darren Dickson, Ryan Lerkee age 33, NI businessman Ciaran McGuran age 43, Christopher Crisler age 38, Tomas Walsh age 43, footballer Thomas Rankin age 26, Robert Doogan 33, Rutgers U student Ronald Anthony Croce 24, St Louis County executive Cora Faith Walker, PLYMOUTH - Town Clerk Pearl Sears, vocalist Keaton Pierce, country singer Jeff Carson, Zarife Imeri, 23, Cedric baekeland 28, Helena de Marco Lavalle- 5 Year Old Girl From Brazil, math and science teacher Amy Depp, footballer Jorge Salmerón Mezcua age 13, Gregory F. Scelzi, "Greg" age 17, journalist David McKechnie age 45, Michael 'Mikey' Hynes, 22, Jody Keenan 39, Michael Hynes 22, Emily Louise Throckmorton 44, musician Simon Clulow 39, Allen Ray Grimes, II 32, Adam John Ocker, 35, Dru Curtis Gladney 65, Maria Cristina Taralli 45, Cuban Judo champion Estela Rodriguez 54, John Paul (JP) Ramel, bass player Tim Feerick age 34 yrs, 20 yr old softball player Lauren Bernett, Amanda McManus 36, Robbie Roper 18, Julian ‘Jools’ Sweeney 14, Layth Maumoniat 12 yrs old, Neil Campbell 45, Rachel Quinn 27, Sushant Singh Rajput 34, Karly Scott, 24, Mary Frances Cronin, 23, Oliver (Ollie) Heimreich 12, principal Philip Carollo 56, Lazar LaPenna 10, Emma Horrell age 31 … RIP. RIP to Petra Mayer (NPR), and Dr. Sohrab Lutchmedial, both JUST had their booster days prior. Kim Mi-Soo and Brittany Lauderback , Marvelous Marvin Hagler, rapper DMX, Alexandros Lampis... RIP. Eric Blumreich, Coach Ron Frederick, EMT Matthew Clancy, Bradley Bowman, Serbegeth Singh, Breck Denny, TikTok creator Candice Murley.. RIP