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Thread: Are there any tests that do karyotyping/chromosome counting?145 days old

  1. #1
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    Default Are there any tests that do karyotyping/chromosome counting?

    Does anyone here know if such tests exist? Personally, I’d like to be screened for the kind of chromosomal abnormalities that would show up in a karyotype. I’m 99.9% sure I don’t have any problems, but I’m still a worrier.

    I thought a DNA test could’ve been a way to kill two birds with one stone. I love 23andme, but it appears that their testing is strictly SNP genotyping, and apparently they can’t even tell if someone is intersex or not (at least this is what Alex Khomenko [who’s a leading 23andme geneticist] told me in a private message despite contradictory statements from his part on the matter). Is mere SNP genotyping standard as far as DTC DNA tests go? Are there any tests out there that both provide admixture information and count your chromosomes? Or are there at least any that provide the kind of raw data that a third party could look at in order to screen for chromosomal abnormalities?

    If the answer is “no”, does that mean I’d have to go through doctors (ya know, those people who’d refuse anything that would make their own patients feel better about themselves, be it via hormonal therapy [except if you’re a mentally ill transsexual] and/or DNA tests [except if you’re an hermaphrodite]) in order to resquest such analyses? Also, what would the most affordable chromosome counting service?
    “The only true wisdom is in knowing you know nothing.”
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    “The unexamined life is not worth living.”
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    “There is only one good, knowledge, and one evil, ignorance.”
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  3. #2
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    Member / DNA Hobbyist thetick's Avatar
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    Default

    The cost around thousand dollars for Whole Genome Sequencing test so most people are not interested.

    OK if you have a grand to spend:
    Whole Genome Sequencing 20x test is the bare minimum. That is currently a $900 test.
    Your doctor can only recommend CLIA Compliant test like -- Genome Sequencing 30x $1295 (Clinical Laboratory Improvement Amendments Compliant)
    See tests available https://www.fullgenomes.com

    Now with that said I have no idea what could be detected and what tools are available. I suggest you post your question at https://anthrogenica.com/forumdispla...6-Full-Genomes
    as the founder of of the company, warwick, is very active at the forum.

    Update about tool to purchase to analyze data:

    https://anthrogenica.com/showthread....l=1#post376437
    tool compatible with FGC whole genome data:

    https://www.enlis.com

    Supports WGS vcf files

    Supported formats:
    VCF
    Complete Genomics (var-[ID].tsv file)
    23andMe
    Ancestry.com
    FamilyTreeDNA.com

    Uncompressed data, or data compressed in zip, gzip, or bz2 formats is accepted

    Click here for more information on supported formats

    Typical import and analysis times:
    Exome VCF - 15 minutes
    Whole Genome VCF - 40 minutes
    Complete Genomics (var-[ID].tsv file) - 40 minutes
    23andMe - 20 minutes
    Last edited by thetick; 2018-05-02 at 01:53.

  4. The Following User Says Thank You to thetick For This Useful Post:

    Power77 (2018-05-02)

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