There is a gene mutation test done for Tay-Sachs called HEXA
Posted By: MTISME on 2008-09-25
In Reply to: Saxena - Brooke
Subject: There is a gene mutation test done for Tay-Sachs called HEXA
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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.
The Dix - Hallpike test (also called Nylen - Bárány test). Link for you.
Subject: The Dix - Hallpike test (also called Nylen - Bárány test). Link for you.
http://www.earinfosite.org/atoz.htm
Is there a lab test called Chem-684?
x
The hemoglobin A1c test (also called H-b-A-one-c)
Subject: The hemoglobin A1c test (also called H-b-A-one-c)
x
The test you are referring to is called the
Subject: The test you are referring to is called the
'empty beer can test.'
There is a genetic test called TDFA. Here is link.
Subject: There is a genetic test called TDFA. Here is link.
Complete information for TDFA gene (genetic locus), Testis-determining factor, autosomal (ZFY-related autosomal) www.genecards.org/cgi-bin/carddisp.pl?gene=TDFA - 117k - Cached - Similar pages
Lab test called Mixin or Myxin? She's saying it was done with factor levels (sm)
Subject: Lab test called Mixin or Myxin? She's saying it was done with factor levels (sm)
Anyone ever heard of anything like this? TIA
There is a drug (not a test) called prometrium (taken by menopausal women) to balance estrogen repla
Subject: There is a drug (not a test) called prometrium (taken by menopausal women) to balance estrogen replacement?
Tay-Sachs? nm
Subject: Tay-Sachs? nm
Hill-Sachs
Subject: Hill-Sachs
Definitely Hill-Sachs. sm
Subject: Definitely Hill-Sachs. sm
Hill-Sachs
Subject: Hill-Sachs
BTW, it's Hill-Sachs lesion (h, not k). nm
Subject: BTW, it's Hill-Sachs lesion (h, not k). nm
x
Genetic mutation
Subject: Genetic mutation
The doctor states, "This entity (focal segmental glomerulosclerosis) has been associated with a number of genetic mutations, most prominently for s/l potasin. TIA.
BRCA2 mutation nm
Subject: BRCA2 mutation nm
HFQ or HF2 genetic mutation
Subject: HFQ or HF2 genetic mutation
This is for breast cancer.
JAK2 mutation...that's it!!!! Thanks so much!
Subject: JAK2 mutation...that's it!!!! Thanks so much!
try BRAF mutation
Subject: try BRAF mutation
Can find Otis, Sachs, and Storz as commonlly heard
Subject: Can find Otis, Sachs, and Storz as commonlly heard
s
how to write the mutation letters?
Subject: how to write the mutation letters?
Does anyone know how to write what is in the parenthesis? Is that correct???
His clinic note from February 14, 2008 mentions that she has hemochromatosis with a "C2 A2y" mutation, but he does not mention whether or not she is heterozygous or homozygous.
bracket ____ mutation
Subject: bracket ____ mutation
S/L bracket 2 mutation?
Thanks! 
H-terk mutation? Dyskeratosis congenita.
Subject: H-terk mutation? Dyskeratosis congenita.
He spelled "H hyphen T E R K" but I can't find H-Terk mutation anywhere. The patient has dyskeratosis congenita. This is an oncology report. Can anybody confirm this mutation type???
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
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
gene (s/l oliel) for hemochromatosis -NM
Subject: gene (s/l oliel) for hemochromatosis -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
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.
is it Hill-Sachs or Hill-Sacks? nm
Subject: is it Hill-Sachs or Hill-Sacks? nm
KRAS mutation how to format KRAS NM
Subject: KRAS mutation how to format KRAS NM
A Lachman test is a medical test used for examining the Anterior Cruciate Ligament (ACL) in the knee
Subject: A Lachman test is a medical test used for examining the Anterior Cruciate Ligament (ACL) in the knee
/
Patient has a positive drawer test and s/l wobble test (knee pain)
Subject: Patient has a positive drawer test and s/l wobble test (knee pain)
thanks so much!!!
Do not post test questions on the MTStars website. Take your test honestly.
Subject: Do not post test questions on the MTStars website. Take your test honestly.
/
There is an empty can test and a drop arm test for assessing the shoulder. Cannot reference
Subject: There is an empty can test and a drop arm test for assessing the shoulder. Cannot reference
"arc" test.
Kemp test is a lumbosacral nerve root impingement test
Subject: Kemp test is a lumbosacral nerve root impingement test
Found a Purdue test on Google...sounds like a dexterity test.
Subject: Found a Purdue test on Google...sounds like a dexterity test.
Colton-Born test? typing for PT, test for hypermobility.. SM
Subject: Colton-Born test? typing for PT, test for hypermobility.. SM
It could be cottonborn, carltornborn, I have no clue. Have looked everywhere. Have an ortho book but nowhere to be found. She keeps saying it in every note. Just started her today. Any help would be appreciated.
there is a heel test to test for bone density. susan
Subject: there is a heel test to test for bone density. susan
shell test or shelf test of hands for arthritis
Subject: shell test or shelf test of hands for arthritis
Which one is correct. It sounds like the doctor is saying shell test. This is for arthritis of the hands. Thanks.
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