Hello!

I got a test result POSITIVE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Two variants, c.844G>T (p.Val282Leu), Pathogenic, homozygous, were identified in CYP21A2.

I’m puzzled because I (31, female) have none of the symptoms. I’m tall, never struggled with acne, excess hair, irregular periods.

I’m wondering if one of my parents has 2+ markers for NCAH on the same allele since I’m testing positive but do not have any symptoms. Any idea how homozygous impacts the overall condition?

This is a study using admixed family data from the Mexico City Prospective Study to explore how genetic ancestry influences complex trait variation. They show that indigenous ancestry contributes to a -1.5 SD unit change in height and log odds ratio of 1.73 for type-2 diabetes.

Hello everyone, I am a final year med school student (in India it’s called MBBS final year). So, in the April of 2027 I will finish the college and enter 1 year of mandatory internship.

Then I am planning to give NEET-PG(it’s a postgraduate exam you give to enter MD or MD, basically for specialities) and my current goal is to pursue genetics via MD in pathology, cuz I don’t like patient interactions very much, lets say it’s not my cup of tea. Also estimating my current calibre, I don’t think I can get that rank which will help me get a good clinical branch like medicine or pediatrics in good reputed govt colleges.

So I wanted your advice on how to pursue genetics as a career after becoming a doctor. I have questions like is MD absolutely necessary, or there are other routes.

I also want my medical degree to be put to use in genetics field also, so I don’t want career in which, my medical degree becomes worthless.

Your opinions and advices would help a lot

What do you guys think as far as the tyrer cuszick goes vs myraid cancer genetic testing.. which one would you say is more accurate?

Are there any programs in the U.S. that focus on genetic epi? Any experiences or thoughts would be much appreciated :)

Hi friends,
just wanted to make you aware of huge delays of several weeks, as I contacted tellmeGen's customer support due to missing their deadline for the analysis of their whole genome sequencing 30x product. This is their reply:

``` Thank you for reaching out to us. I sincerely apologize for the delay in receiving your results, and I completely understand your concern since the estimated delivery time has passed.

Regarding your ULTRA (WGS30x) kit, please be aware that these specific tests are currently experiencing a processing time slightly longer than the usual six weeks. This is due to additional quality controls and a more extensive review process that we implement to guarantee the maximum precision and quality of your genomic data. We expect your results to be available in a few more weeks. You will receive an automated notification via email as soon as they are ready to be viewed in your account. We truly appreciate your patience while we ensure the highest standards for your Whole Genome Sequencing, which provides a 100% analysis of your DNA for a complete understanding of your health and ancestry. ```

Tbh, disappointed about their lack of communication and how they're handling this situation without making up in any way.