gene (s/l oliel) for hemochromatosis -NM
Posted By: PULMO on 2009-06-19
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Subject: gene (s/l oliel) for hemochromatosis -NM
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hemochromatosis
Subject: hemochromatosis
x
hemochromatosis? NM
Subject: hemochromatosis? NM
You have it right. It is hemochromatosis.
Subject: You have it right. It is hemochromatosis.
hemochromatosis?
Subject: hemochromatosis?
How clear is what you're hearing? Maybe hemochromatosis? nm
/
Hemochromatosis is the iron overload condition. nm
Subject: Hemochromatosis is the iron overload condition. nm
x
Gene mutations
Subject: Gene mutations
They discovered inactivating mutations in a gene that can disrupt thyroid hormone synthesis, and produce a permanent congenital hypothyroidism, which would be a "repressed hypothyroidism."
Gene screening
Subject: Gene screening
He has had open right adrenalectomy and an FNA of his thyroid nodule. The thyroid nodule was consistent with a benign process.
Since his last visit, we did send off gene screening for the "Rett protolocegene" that has come back negative so he is not an MEN-2A or 2B patient.
NFRSF1A gene?
Subject: NFRSF1A gene?
fmf gene testing
Subject: fmf gene testing
and gene amplification
Subject: and gene amplification
Need help with a gene mutation
Subject: Need help with a gene mutation
Does anyone know how this should be written. The dictator is stating a Q5 mutation. I have done some research and have come up with R506Q mutation. Should I be typing R506Q mutation or QV mutation.
schocks gene
Subject: schocks gene
followed by endocrinology due to her history of short stature. She had had a karyotype performed by them in the past, which revealed a normal 46-XX karyotype. She also had normal testing of the *** (Schocks?) gene.
? gene allele maybe - nm
Subject: ? gene allele maybe - nm
perhaps gene amplification? ... oncology
Subject: perhaps gene amplification? ... oncology
isn't my specialty though. Just a guess.
S/L Shocks gene deletion
Subject: S/L Shocks gene deletion
Doc dictates there is a family history of s/l shocks gene deletion. TIA!
According to my glossary, there is gene sequencing. sm
Subject: According to my glossary, there is gene sequencing. sm
http://ghr.nlm.nih.gov/glossary=sequenceanalysis
Also found refs to L2 sequence.
Not sure though, will look some more.
BRCA1 gene for breast CA? nm
Subject: BRCA1 gene for breast CA? nm
Past medical history s/l ben rr ma gene
Subject: Past medical history s/l ben rr ma gene
Under past medical history, dictator is saying s/l ben r r ma gene. Or banner arma gene. ???
Patient also has hypertension, dyslipidemia, asymptomatic stroke, sleep apnea, renal insufficiency. Any ideas?
Plasmid-borne armA gene?
Subject: Plasmid-borne armA gene?
"with PAI-1 Stage 4G/5G gene heterozygous" nm
Subject: "with PAI-1 Stage 4G/5G gene heterozygous" nm
Never mind! Doc spelled it out = SHOX gene deletion
Subject: Never mind! Doc spelled it out = SHOX gene deletion
Doc spelled it out later in the dictation. Nice doc, huh?
eNos is a gene therapy & still in testing, OP states doc said it was old treatment. NM
Subject: eNos is a gene therapy & still in testing, OP states doc said it was old treatment. NM
There is a gene mutation test done for Tay-Sachs called HEXA
Subject: There is a gene mutation test done for Tay-Sachs called HEXA
hemochromatosis versus hemachromatosis. Report came down with hemachromatosis but Steadman's show
Subject: hemochromatosis versus hemachromatosis. Report came down with hemachromatosis but Steadman's shows
hemochromatosis. Which is correct? I am going with Steadman's. Thanks in advance for your help.
On CT angiogram: s/l "ro gene eous" material in the prepontine cistern. sm
Subject: On CT angiogram: s/l "ro gene eous" material in the prepontine cistern. sm
head CT angiogram, which showed no evidence of arterial aneurism but previously described the rogeneous material in the prepontine cistern reflects a combination of vascular structures and vein hardening artifact.
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