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https://quizlet.com/96197393/abgc-practice-test-1-022015-flash-cards/ | sjblease | A woman who was evaluated and diagnosed with facioscapulohumeral (FSH) muscular dystrophy 10 years ago calls to request general information to share with her new husband and his family. The couple is considering starting a family in the near future. What is the counselor's BEST response to the woman's request? |
https://quizlet.com/96197393/abgc-practice-test-1-022015-flash-cards/ | sjblease | During the pre-authorization process, the genetic counselor learns that the patient will have to pay for follow-up molecular testing out of pocket and can afford testing for only two genes. In addition to MLH1, which genes should be tested to identify the causative mutation? |
https://quizlet.com/96197393/abgc-practice-test-1-022015-flash-cards/ | sjblease | A 38-year-old woman is referred during her first trimester for genetic counseling. Her female partner accompanies her to this visit. The pregnancy was conceived using donor sperm. How is this reproductive scenario indicated when drawing the pedigree? |
https://quizlet.com/96197393/abgc-practice-test-1-022015-flash-cards/ | sjblease | A 15-year-old girl at 21 weeks gestation comes with her mother to the genetic counselor because the fetus has gastroschisis. The patient's mother insists that the birth defect is incompatible with life and that she should terminate the pregnancy, but the patient says she wants to keep the baby. However, the patient says that she might terminate the pregnancy if the counselor says the chances of the fetus surviving are poor. The mother becomes agitated when the counselor states that the birth defect is often compatible with life. She accuses the counselor of undermining her authority as the mother. Which of the following is the BEST response by the counselor?
A. Acknowledge the mother's concerns, but inform her it is the counselor's obligation to provide accurate information.
B. Ask the mother to leave so the counselor can speak with the daughter alone.
C. Call the daughter after the session at a time when the mother is not at home.
D. Leave the room for a short time, and allow private discussion between the mother and her daughter. |
https://quizlet.com/96197393/abgc-practice-test-1-022015-flash-cards/ | sjblease | A 4-year-old boy is referred to a genetics clinic because he has calf hypertrophy and trouble rising from the floor when seated. His creatine kinase level is 10,000 U/L. Which of the following is the BEST initial method to determine his diagnosis?
A. dystrophin immunohistochemistry on muscle tissue
B. dystrophin deletion/duplication analysis followed by sequencing
C. Western blot analysis for dystrophin on muscle tissue
D. FISH analysis for deletion/duplication detection |
Reddit | /r/genetics | Doctor refusing to refer to genetic counseling?
Hi! I have very little knowledge of genetics, I also have very little knowledge of my family medical history and found out that my mother lied about some surgeries and diagnoses that I got when I was younger. A good portion of this revolves around brain surgery, I also found out that my father had brain surgery and the same type of seizures as me (found out after ten years). My mom, maternal grandmother, sisters, and I all have really weird menstrual issues and I know of a few other (seemingly genetic issues) that they should see doctors for. Not to mention some form of cancer but nobody knows what kind of cancer.
I also struggle with being asymptomatic on many levels, they thought my tumor (which caused the seizures and was the type of tumor my father had as well) was a chocolate allergy but never did allergy tests. My menstrual issues still haven't been figured out since my hormones are normal, I was kept on daily Miralax for seven years because doctors kept telling me to take it "until it works", etc.
When I've brought these points up with my doctors, they've told me that genetic testing wouldn't be useful at all and I don't have any solid reasoning to need genetic testing. So is there a way I can get independent/elective testing other than places like 23&me or other consumer tests? I've googled my options and came up with one doctor that has a two year waiting list (which I did get on) but would prefer something sooner. |
Reddit | /r/genetics | Questions to ask when shadowing a genetic counselor?
I have a meeting scheduled with a GC in a couple weeks and I'm currently working on preparing some questions to discuss while I'm there. This will be my first time meeting with a GC and sitting in on a case, so I'm super excited! I already have some basic questions ready (see below), but I was just wondering if there are any additional questions that might be worth asking. For those of you who are current GC students or are practicing GCs, what kinds of questions did you ask when you were in the shadowing process? |
Reddit | /r/genetics | Found out I have a Fragile X intermediate zone mutation. We’ve spoken to 3 genetic counselors and 2 of them have made it sound like not a big deal while the 3rd made it seem like something we should definitely be cautious of when having children. We are thinking of pursuing the CGG/AGG testing but I wanted to see if I could get some more opinions on how serious this mutation actually is? I’m a bit confused with the different opinions we’ve received. |
Reddit | /r/genetics | Thinking about having kids one day, but worried about Autism running in my family
I was born in Peru with my older brother from my mom (Peruvian) and my mom's ex-partner in Peru(Italian descent). When my mom and her family arrived in America, our family started having some problems.
My mom married my step-dad (American), and had an autistic boy and a normal healthy girl.
My mom's sister married an american guy and had an autistic boy.
My mom's brother (Uncle #1) married a peruvian lady in peru and had two healthy girls before moving to America. However one of their daughters married an american and had an autistic boy.
My mom's other brother (Uncle #2) has had a son who was normal and a daughter who is normal with two different american girls.
So from the above information it looks the females in my family have started having autistic boys, but not autistic girls. My uncle #2 having a normal healthy boy is my only evidence that a man in my family can have a healthy boy.
My question is could it be that the autistic gene is just being transmitted by the females in my family? Given the recent surge of autistic males in my family, should I be worried having a child with my future wife? |
Reddit | /r/genetics | I'm anxiously waiting for a call from the genetic counselor but our microarray tests were sent to me and said it was a female fetus. However, the doctor after our D&E procedure said he was a boy.
The microarray was normal otherwise. Our baby had multiple brain abnormalities including fluid in the brain, cyst and missing cerebellum and a cystic horseshoe kidney.
Has anyone else been through this? Could the sex difference be the cause of the abnormalities? |
Reddit | /r/genetics | My boyfriend and I are excited to plan a future together. We are both excited for a future that involves children.
My sister and my boyfriends brother (among other family members) have schizophrenia.
We would like to understand the likelihood that our children would have schizophrenia.
-What reliable resources exist that could point us in the right direction? -Should we pay to see a genetic counselor? What information could they give us? |
Reddit | /r/genetics | Our first child on the way, we've been hit with XYY, now VUS.
This is our 4th and only successful pregnancy so far. My wife is 38 and I'm 36, we've been trying to have a baby for awhile and we've been unsuccessful until now. Our NIPT test came back with XYY syndrome. We followed up with a CVS w/ micro array and it came back with XYY all cells, mosaic Trisomy 20, and mosaic 11p15.2. We followed up with a amniocentesis which confirmed XYY (we were expecting this) Trisomy 20 was only found in the placenta, and a VUS partial duplication of 11p15.2 which was a surprise. We both were tested and this partial duplication did not come up for us. My wife is struggling with the fear of the unknown, this has been really hard on her after everything she's been through. Speaking with the genetic counselor was good but I want to hear anyones experience with VUS and if I should be concerned. I want to re-assure my wife it'll be ok but I know with a VUS I can't really do that. Should we be worried? Sorry this has been a lot to digest and understand. |
Reddit | /r/genetics | Missing part of Chromosome 3 but no Physical/cognitive disability. How?
Hi! Yesterday I got the results from a karyotype test and it says 46,XX,del(3)(p25.3) my mum also got similar results 30 years ago (they tested her after she had her second miscarriage -I was borned before that- ). None of us have physical or cognitive disabilities. How is this even possible? Shouldn’t we have a balance translocation? I would like to have kids and I am worried by the impact of the results. |
Reddit | /r/genetics | I got my 23andme results back and plugged my raw data into Genetic Genie, and after hours upon hours of delving into genetics research, I'm still a little lost. I understand 23andme only does genotyping so I may not get a full, accurate picture.
I'm mainly interested in receiving help understanding my variant report as I have BRCA1 and BRCA2 listed on there. My mother passed from breast cancer after her diagnosis at age 43, my cousin on my father's side was just diagnosed with breast cancer a couple years ago, and my paternal grandmother passed away from ovarian cancer. Because of my family history, my doctor referred me to a genetic counselor and I have an appointment with them in January. So I will be receiving more accurate results and consultation then, but in the meantime I'm curious what information I can get out of my variant report. |
Reddit | /r/genetics | Okay, so I am just going to throw everything out there since my nephew was just diagnosed with SMA type 2 and I’ve been researching genetic links to my daughter’s degenerative epileptic encephalitis (it’s been diagnosed as different conditions: ESES, childhood temporal lobe, Rolandic, spike and wave, there’s been a lot of terms thrown in there). There is a lot of links related to the SMN1 and ASAH1 genes. She and I may both be recessive carriers of mutations. That being said; I have scoliosis, but not progressive, my spine is just really twisted and curved. Last MRI I had was 5+ years ago and I had two lesions that were to be monitored but then I had a special needs child so I don’t get my own tests done anymore and I know I need to do that. I’m also on psychiatric meds and experience severe anxiety. My half sister and I share our dad who has a myriad of psychiatric issues that led to debilitating alcoholism and other health issues. She developed progressive scoliosis as a child and had to wear a back brace and eventually have a rod put in her spine to keep it from crushing her lungs. She now has a shoulder blade that protrudes and ribs that stick out and it seems to match the description of neuromuscular scoliosis. She’s also had one seizure while driving in her twenties, but it was written off to her drinking way too many Red Bull’s on an empty stomach trying to drive to vacation. I’m 34 and she’s now 25. She also has a myriad of psychiatric issues including debilitating anxiety, eating disorders, and an attempted suicide when she was younger. With therapy and drugs, we are both fairly leveled our individuals now with happy marriages and children. She has the one child (1) with SMA type 2. I have a daughter (7) who has been battling this medication resistant epileptic encephalitis that causes learning delays and received IVIG infusions. My other daughter (6) has almost debilitating anxiety and speech delays but no history of seizures. She is working with a counselor for her anxiety. And now we have a baby boy (7mo) that has now twice displayed something related to an infantile spasm and a seizure, which has caused me to be up at 2:30 AM reading any scholarly article I can find linking all the neurological issues. Mostly between her son and my daughter. It just seems there has to be a correlation that we both have children with degenerative Neuro diseases and when I read all about issues associated with these gene abnormalities, I can’t help but think we need some much more in depth genetic testing. I have emailed my daughters neurologist tonight and I also have researched clinics studies related to genomics and epilepsy and plant to pursue contacting them tomorrow. Does anyone know what kind of genetic specialists I should be looking for? Is there a geneticist out there specifically studying SMA and epilepsy? |
Reddit | /r/genetics | Rare Mutation- CLCN6 - Other people impacted by this?
My son was recently diagnosed with a rare gene mutation- CLCN6, and I am looking to see if there are other people with this condition.
The genetic counselor explained that it has only recently been discovered and that the only literature available is 3-4 children who presented with more severe symptoms than my son. This makes it difficult to provide insight on to how this may progress or what other impact it may have. She told us that it is regressive in nature so it is possible he could start losing motor skills, impact his breathing, feeding and other functions controlled by the central nervous system. |
Reddit | /r/genetics | I am an SMA carrier and we just found out my husband has 3 SMA genes (while I have one making me a carrier). My husband is 34 and has no SMA symptoms.
We’re waiting to hear back from a genetic counselor. In the meantime, does anyone have any insights on what this combination could mean for our baby? |
Reddit | /r/genetics | My wife had an amnio done where the microarray revealed two microdeletions. One on an x link (which is not much of a concern), and the other on 16P11.2. (Very concerning).
There’s not terribly much information available on the internet about it (And none of it is good). We’ve just met with a genetic counselor which confused us even more than we were before.
Is there anyone out there who had experience with this, or know someone who did, (especially prenatally), who can give us insight into how/what you’re doing after the birth? |
Reddit | /r/genetics | Hi everyone, im 32 years old and survived stage 1 colon cancer at 28 years old
so some week ago i did a genetic test for cancer predisposing syndrom ( invitae panel with more than 80 gene convered) and no mutation has been found
i d'ont have any family history of colon cancer ( my cousin,aunt, father mother , brother ... are fine)
my genetic counselor said it can just be bad luck or some envirommental shit
my oncologist told me its probably genetic since i got it so early
What can be the cause ? |
Reddit | /r/genetics | Hello, yesterday I saw a genetic counselor because my mother got breast cancer. Im a man but I don't really know a lot about the health of my family We scheduled an appointment to get tested for some mutation
The gene that afraid me the most is p53, a mutation in this gene usually mean that you ll spend your whole life in hospital (screening, treatment...)
Check2 afraid me too because it's seem to be common and involved in p53
What are my odd to have a p53 or check2 mutation? I'm from north Africa but born in France |
Reddit | /r/genetics | My mother in law was recently diagnosed with breast cancer and just texted us tonight and told us she is CHEK2 positive. She told us that my husband has a 50% chance of having it, and if he does our children have a 50% chance of also having it. We’ve been stress googling tonight and learning a little about it, and are also going to consult a genetic counselor and get my husband tested as soon as possible. But, we are of course panicking with little information now, and not a great understanding on what this really means. From what I read, it sounds like if he and/or our kids have it, they’re at a largely increased risk of developing multiple types of cancer. We aren’t close with his mother, and I doubt she will give us any further information on her diagnosis other than being positive for it. Could anyone explain what this means and how much of a risk he and my children really have for cancer? Does this mean, if positive, he will definitely get cancer in the future? To add to this, we were planning on starting trying for our final child in the new year. Is the severity of this high enough we should hold off? |
Reddit | /r/genetics | Took a genetics test for the presence of breast and ovarian cancers since my mom died at an early age of breast cancer. Only thing that was found was "Variation of uncertain significance identified: BRIP1" Genetics counselor said it's probably nothing to worry about but it occurred to me after our call, that I don't even know that the gene signifies. Can anyone help? |
Reddit | /r/genetics | My wife and I have 11 month old fraternal twin boys. Twin A has had a host of health issues, and after genetic testing, were told he has a partial duplication of 4q - base pairs 31.3 to 35.2. We're going to see a genetic counselor, and me, my wife, and Twin B are going to be tested.
The only useful information I could find comes from an article on "rarechromo.org" but it's only based on something like 43 cases. I'm wondering what weight I should put, if any, on a study of 43 cases as it seems like an extremely small sample size, and is a mixture of duplication of different portions of 4q. I'm most concerned about long term outlook on developmental delays and intellectual abilities, but don't think there's really much out there to guide me. |
Reddit | /r/genetics | Looking for genetic advice. I’ve seen genetic counselors in the past, but I would like more opinions. My husband and I have two beautiful girls. Our first is fine. Our second was noted to be perfectly healthy at birth- 8 & 9 APGAR. After discharge from the hospital, she was not eating. She was then admitted to the hospital and noted to be hypotonic by some physicians-not all and continued with poor feeding. She had a feeding tube for a year. In the midst of that year we found out that she has a genetic condition. It is slightly similar to downs but little is known about it.
I am a carrier of a deletion, my husband is a carrier of a mutation. What are the odds? We have a 1 in 4 chance of this happening again. She is now 2 and is thriving! She has surpassed every physician’s expectations and now you would have no idea of her past. She is talking, walking, potty trained herself, and seems to be cognitively average to advanced. We want to have another child. We looked into IVF, but decided not to for several reasons. The reason why she is doing so well is because the deletion that I have is very short. I at one point decided that if she is my one in four, what do I have to fear? But I do fear my deletion lengthening and we have a child that is more affected. So basically, how often does it happen that a deletion lengthens? What are the odds of that.? Thank you in advance for reading and advice. |
Reddit | /r/genetics | The following panels were recently performed on my pubescent daughter:
https://providers.genedx.com/tests/detail/autism-id-panel-1007
Overall interpretation: “Whole genome chromosomal microarray: “Negative. Whole genome chromosomal microarray analysis did not identify any copy number changes of known clinical significance.”
https://providers.genedx.com/tests/detail/autism-id-xpanded-panel-849
(A particular VUS was identified but isn’t the topic of this post)
Additional comments: “Variants identified by previous testing that do not meet the reporting threshold for this test may be included below. -“
The assessment later lists percentages next each gene in the panel (some 2k+), prefaced like this:
“The following genes were specifically reviewed with the percentage of the coding region covered at >10X by exome sequencing indicated in parentheses:”
The vast majority are (100%). Many in the 80-99% range. A few stragglers ranging between 50-79%.
Then shows up NLGN4Y aka Neuroligin 4 Y-Linked at 12.25% ?
… am I correct in assuming that it is entirely unexpected (impossible?) for a true female to be carrying a Y-linked gene? What am I missing? |
Reddit | /r/genetics | My amnio results came back with a 3.92 MB Interstitial deletion at 1p22.1->p21.3 and I am terrified my baby will have an intellectual disability. The genetic counselor is not sure how the baby will be affected as the deletion does NOT include MIR137. There have only been I think 12 reported cases of people missing 1p22.1 and they all have severe ID. However, they are all missing MIR137. There are no reported cases of the same deletion they say my baby has.
The test shows deletion of 1p22.1p21.3 (94, 055, 89-97, 972, 315)x1
1. Is there a chance the microarray test is incorrect? I can't believe that my baby would have something this rare.
2. The test also states "there are genes in the interval that are associated with autosomal recessive diseases -- ABCA4 and DPYD. Autosomal recessive conditions have a clinical effect only when both alleles are abnormal. the analysis showed no evidence of a homozygous deletion." Does this mean the baby most likely won't be affected by the missing DPYD? |
Reddit | /r/genetics | I am an adult female with VACTERL Association, and I'm looking to begin trying to have children in the near future. I honestly never really considered whether VACTERL was heredity, my parents always explained it as a "bad spin of the genetic wheel".
So I ask - any insight if VACTERL is hereditary? There are no other incidences in my family, but I am wondering if I'm at risk for passing anything along to my children. Thanks for any insight you can provide. |
Reddit | /r/genetics | Hi! I'm a high school student trying to figure out what they want to do. I have a few questions about becoming a Genetic Counselor:
1. What should my major be in college?
2. What is sort of a daily routine of a Genetic Counselor? What is the work environment like?
3. Is there any class I should be taking in high school? Any good electives that prepare me for this sort of job? |
Reddit | /r/genetics | How much did IVF influence my child's genetics?
I am a carrier for retinitis pigmentosa, an x linked condition that affects my brothers. My mom gave all three of us her faulty X. I did IVF with genetic testing and have a beautiful daughter that is not a carrier (and not affected since she is female.)
Is she more likely to be like my dad's side of the family because of our selection? I look just like my mom. My mom's side of the family has some pretty good stuff, mainly high intelligence. My dad's side of the family has some issues. Did I select a baby that won't be like my maternal side of the family genetically ? |
Reddit | /r/genetics | For those who had genetic testing done when the results were ready did you have to have a call with the genetic counselor or did you receive the results a different way? I’m scared that they said I have to have a call with them that my test results are positive. Any of you have a call with a genetic counselor and have negative results? |
Reddit | /r/genetics | I'm trying to learn more about genetics, specifically genetic testing as my geneticist is encouraging me to sequence my dnd in hope to identify/rule out any connective tissue diseases known to cause aneurysms. He's quoted me the lab fees of approx. $1055usd for full exome sequencing vs $3724usd for full genome sequencing, however he feels the likelihood of finding any known links to my illness is low. Potentially 10% with exome and 15% with genome.
I'd love to get your opinion on if you think it's worth sequencing the full genome or if it's better to stick with just the exome sequencing and waiting 5-10 years to do full genome sequencing when the prices come down and there are better libraries to identify the genes associated with my disorder? |
Reddit | /r/genetics | Promethease says I carry a variant for Fanconi anemia, but I am confused. I’m 5’6.6”, 175 lbs, no developmental issues, no physical or mental abnormalities—just a birthmark on my nose shaped like an L. I read that FA usually comes with short stature, bone defects, and a bunch of other problems I don’t have. What next steps should I take? |
Reddit | /r/genetics | DNA tests show I have homozygous gene for something that I wouldn’t have lived past 10
Hi everyone my doctor use my raw genetic code from 23 and me and uploaded it a website to do some evaluations for mutations and rare mutations and apparently I have the homozygous gene for something called Mucopolysaccharidoses (MPS syndrome). Super confused as I’m currently 25 and don’t really or haven’t had a lot of the associated symptoms
Is is possible to have two recessive homozygous genes for something and not get the condition or disease? |
Reddit | /r/genetics | I had a genetic panel done in August of this year through Natera using my spit. My results said I’m positive for “multiple variants in the gene associated with congenital adrenal hyperplasia, 21-hydroxylase deficiency…The c.844G>T (p.V282L) variant has been reported in a homozygous state or in conjunction with another variant in individuals with non-classic congenital adrenal hyperplasia.” The test reported it can’t tell if the gene variants are in cis or in trans chromosomes.
The thing is, I don’t have any symptoms of CAH or NCAH. I have read the CYP21A2 gene is particularly tricky to work with, so is it possible the test result is wrong? |
Reddit | /r/genetics | If the results of a MTHFR test hold no significance, why are doctors still ordering it?
I’m just curious as to why a doctor would order this test for a patient when the consensus is that it holds no relevance whatsoever unless maybe you are pregnant (but even then it can be avoided by taking a prenatal vitamin)? |
Reddit | /r/genetics | I recently found out that I have the ENG gene that causes HHT. I am very stressed out thinking that I have a 50% chance of passing this on to my children.
I know about the IVF + PGT option. But it is very expensive and in my country it is not that easy to access. Also, genetic counselors are not a thing here either. I have talked to the geneticist, but I don't feel like I have received all the information I need.
I have days when I say that I absolutely must avoid passing on this disease. And other days when I say that it is not that severe.
I would like to know how serious, dangerous, severe this disease actually is? |
Reddit | /r/genetics | I am a mom to a 4 year old diagnosed with Autism. This past year, I had WGS done on both of us. Turns out that we have the same ultra rare mutation had has been identified as causing his delays.
My question is, if I have the same mutation, why didn’t I present with the same developmental delays? |
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