NEGATIVE FOR SMN1 DELETION
I have been in contact with my doctor but am hoping someone could be quicker than they are lol.. I have bad anxiety.. and a lot of brain fog due to being so sick..this was in my lab report this morning. I wondered if someone could help interpret this for me. This is saying I do not have the deletion correct? Which means “reduced risk” This test is for being a carrier of the SMA gene. Thank you for anyone who can help.
SMA Carrier by Del/Dup
Result Summary See Footnote
RESULT: NEGATIVE FOR SMN1 DELETION (SEE INTERPRETATION)
Result See Footnote
Three copies of SMN1 exon 7 were detected.
Two copies of SMN2 were detected.
Interpretation See Footnote
This result indicates a reduced carrier risk for Spinal
Muscular Atrophy (SMA). Although SMN1 gene deletions
account for 95% of SMA-causing mutations, carrier status
cannot be completely excluded because this test cannot
differentiate at least one copy of SMN1 exon 7 on each
chromosome (1/2) from three copies of SMN1 on one
chromosome and none on the other chromosome (3/0).
Individuals that carry zero copies of the SMN1 gene on one
of their chromosomes may be at risk to have an affected
child.
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