Once I get my gene test results, who can help me with them? For example, a gene consultant or Dr. Any resources?
@Jupiter_Crash6 ай бұрын
Katherine, can a consumer of Guardiome whole genome sequencing be able to detect loss of function to Neiman-Pick C1-Like 1 and/or ATP Binding Cassettes G5/G8? Or would I need to submit this to a Genetic Counselor for deciphering? There is no “sample report” on the website so I don’t how specific results get. Does Guardiome offer private genetic counseling to understand the results? Thank you for your time and expertise.
@KatharineME6 ай бұрын
Hi Jupiter, Guardiome just updated its website and i think it's more clear now what is offered. Guardiome is unique because they will actually look for variants (however rare) that might be causing loss of function for example. So yes they would probably be able to do that.
@Jupiter_Crash6 ай бұрын
@@KatharineME - thx u!
@Jupiter_Crash4 ай бұрын
Katherine, I ordered your 30x test today! I shared your link with my cousin as well. Hopefully she’ll order too! Can’t wait for the app later this year. Your updated site offers very clear information. Thxs for sharing your expertise to the world!
@Jupiter_Crash4 ай бұрын
Was 30x the correct test to order for “loss of function?”
@KatharineME4 ай бұрын
@@Jupiter_Crash 👋 Yep 30X is deep enough for most variant calling.
@AlexHop19 ай бұрын
Thank you, very informative.
@TheGnomatic Жыл бұрын
What is the best way to determine the allele frequency (Hardy-Weinberg Equilibrium) of an individual from a WHG VCF file?