A team of researchers at Probably Genetic is working tirelessly to get undiagnosed Adrenoleukodystrophy (ALD) patients diagnostic answers faster. They are running a 1-minute survey in our community to understand the diagnostic journey of our families better. All participants get $400 off their clinical genetic test, redeemable by anyone in need. You can find the survey here: hipaa.jotform.com/200566497...
If you have any questions, feel free to reach out to their CEO Lukas Lange via lukas@probablygenetic.com.
About Probably Genetic: Probably Genetic provides DNA tests to diagnose rare genetic conditions. It takes on average 7 years after the onset of first symptoms for patients to get diagnosed. Patients cycle through numerous specialists and are often first diagnosed with more common conditions such as fibromyalgia, dysautonomia, autism, or developmental delay, before receiving a more refined diagnosis. Our team consists of PhDs and Rhodes Scholars from the Universities of Oxford and Cambridge, specializing in genetics and artificial intelligence.
About their test: Probably Genetic does a so-called 'whole exome sequencing' test, which sequences all 25,000 genes in the human body. You can request a test on their website and receive results within 8 weeks after you collect the sample at home. Their lab is CLIA-certified and CAP-accredited and you will get a genetic counseling session in addition to your result report. Importantly, this is a clinical test designed to test if a patient's symptoms are caused by genetics. Infotainment tests like 23andMe or AncestryHealth cannot provide diagnostic results.
Probably unjustified. But got my goat.
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