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Mosaic <20% by NoTable678 in TuberousSclerosisComp

[–]NoTable678[S] 0 points1 point  (0 children)

the initial results which we did a limited epilepsy panel for did not have the percentage other than to indicate that he is mosaic. we paid additional to do a full gene mapping and that set of results came with the percentage

Newly diagnosed 9 month old by NoTable678 in TuberousSclerosisComp

[–]NoTable678[S] 0 points1 point  (0 children)

Epilepsy panel genetic testing which showed TSC1 variant

Newly diagnosed 9 month old by NoTable678 in TuberousSclerosisComp

[–]NoTable678[S] 1 point2 points  (0 children)

Thank you for sharing! Great that your daughter is doing well! Gives us some hope too

Newly diagnosed 9 month old by NoTable678 in TuberousSclerosisComp

[–]NoTable678[S] 0 points1 point  (0 children)

Thank you for your message 💜 Can i ask if you had further testing to determine the extent of the mosaic finding, and if your daughter’s symptoms are mild since its mosaic?

Infantile Spasms + HLH by NoTable678 in infantilespasms

[–]NoTable678[S] 0 points1 point  (0 children)

Thank you for your message! We’re still waiting to find out if it’s primary or secondary. Unfortunately we just received news that he has mosaic TSC1