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Doctor insights on: Sarcoma Mutation Analysis Panel

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Etiology of DNA mutations?

Etiology of DNA mutations?

Replication error: Most changes in dna come from errors in the duplication of the dna. But changes can occur in the structure from radiation and some chemicals especially those used in chemotherapy. Most mutations are harmless, some are tracked down by your normal reparative mechanism but a few can cause trouble including cancer. ...Read more

Dr. Milroy Samuel
2 doctors shared insights

Sarcoma (Definition)

By definition, it is malignant (i.e., being locally invasive and at least theoreticlally capable of metastasizing), and arises from / mimics muscle or connective tissue elements that are not marrow or immune / white cells. The sarcomas are a tremendously varied and troublesome family of tumors, though thankfully less common than carcinomas and the leukemia / ...Read more


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Who needs apc genetic testing?

Who needs apc genetic testing?

History of polyps: General indications for APC gene testing include patients who themselves have had 10 or more adenomas or have had a desmoid tumor, or patients who have a family member with an APC gene mutation found on genetic testing. ...Read more

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Is afirma thyroid fna analysis-molecular marker test by veracyte any good for diagnosing papillary thyroid cancer? Http://carolinaendocrine.Com

Is afirma thyroid fna analysis-molecular marker test  by veracyte  any good for diagnosing papillary thyroid cancer?
Http://carolinaendocrine.Com

Pathologist: Already answered(and saw some other answers) to this post earlier today; there is no better way to diagnose this than with a tissue biopsy and an experienced pathologist. ...Read more

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What chromosomal mutation results in alagille syndrome?

What chromosomal mutation results in alagille syndrome?

ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read more

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Pathology lab test for thalassemia?

Pathology lab test for thalassemia?

Electrophoresis: Blood counts can suggest thalassemia (small red blood cells). Some thalassemia can be confirmed with electrophoresis, which quantifies the different types of hemoglobin present in rbcs. Similar studies can be done on the parents for additional info. ...Read more

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Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?

Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial  trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?

Test for Aneuploidy: Aneuploidy is the term used to describe any embryo with either too many or too few chromosomes. It is the cause of greater than 60% of miscarriages, as well as the most likely reason that patients do not get pregnant from an IVF cycle. The purpose of CCS is to analyze, select and transfer only embryos that do not have abnormalities in their number of chromosomes. A genetic consult is needed; ...Read more

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What is a hereditary hemochromatosis DNA mutation?

What is a hereditary hemochromatosis DNA mutation?

Gene Mutation: This is a mutation in one of the genes that help to process iron absorption. The mutation, if present in 2 copies, can cause too much iron to be absorbed. The excess iron then deposits in other organs and can cause disease - cirrhosis, diabetes, impotence. Having only one mutation may not lead to disease. You should discuss this with your doctor to see if you are at risk of developing disease. ...Read more

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Is brca genetic testing a simple blood test?

Is brca genetic testing a simple blood test?

Yes: BRCA testing can be performed from either blood or saliva. A significant amount of DNA needs to be present for adequate testing so most companies require more than a finger stick blood draw. Usually a single blood tube containing 3 ccs of blood is adequate ...Read more

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My mother age 48 urine report: albumin +ve , epithelial cell 1-2/hpf, plus cell:1-2/hpf, rbc:10-12/hpf, ph-6........Is condition for kidney biopsy test?

My mother age 48 urine report: albumin +ve , epithelial cell 1-2/hpf, plus cell:1-2/hpf, rbc:10-12/hpf, ph-6........Is condition for kidney biopsy test?

Not cessarily: The urinalysis should be repeated first, if microscopic hematuria( blood in urine) persist, a sonogram or cat scan may be needed to for further evaluation, kidney stone can cause blood in urine, may need to a see a urologist for further evaluation if urinalysis remain abnormal. ...Read more

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How often do you refer a patient for a multiple cancer genome mutation panel test, such as 46-gene ion torrent cancer ampliseq check up?

How often do you refer a patient for a multiple cancer genome mutation panel test, such as 46-gene ion torrent cancer ampliseq check up?

Never : Outside of a clinical trial, never. We have no data to support using any of these results to make treatment decisions. It is always tempting to want to know more, and to extrapolate these answers into treatment decisions, but we are not there yet. ...Read more

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Would a high resolution cytogenetic analysis detect DiGeorge syndrome or q22?

Would a high resolution cytogenetic analysis detect DiGeorge syndrome or q22?

Multiple tests...: There are multiple tests used to detect DiGeorge syndrome. The one preferred is comparative genomic hybridization(aCGH) to detect the 22p 11.2 deletion. It compares the patient's genome against another one used as reference.For more information and decision on further tests this should be consulted with a Genetics specialist. ...Read more

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Muscle Biopsy Results Meaning? rare chronic inflammatory cells, composed of CD3/CD8 positive T-lymphocytes and CD68 positive macrophages.

Muscle Biopsy Results Meaning? rare chronic inflammatory
cells, composed of CD3/CD8 positive T-lymphocytes and CD68 positive macrophages.

All lab test need ..: With data we need clinical context. That is why you are having trouble. There is not enough information to provide an interpretation. ...Read more

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Sev. Dev. Delay -array comparative genetic hybridization (acgh) results indicate no abnormalities- would full genetic sequencing be advised (knome)?

Sev. Dev. Delay -array comparative genetic hybridization (acgh) results indicate no abnormalities- would full genetic sequencing be advised (knome)?

Not necessarily: Newer genetic tests provide incite into a variety of issues like autism & other developmental variations.Yet causation remains elusive in many cases.Sadly, an injury to the developing brain centers from an unrecognized event in an otherwise normal pregnancy is a likely cause for many.This occurs in at least half of cerebral palsy cases & dev.Delay could be produced in others, yet hard to prove. ...Read more

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Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?

Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?

See below: Lynch sydrome is caused by a germline mutation in a gene leading to msi. Combined testing for msi, and using ihc to look for genetic abnormalities leading to msi are the best tests to determine if you have lynch syndrome. Further genetic testing could be done in people who test positive for msi or ihc. Please see: http://www.Mayoclinic.Com/health/lynch-syndrome/ds00669/dsection=tests-and-diagnosis. ...Read more

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Is a noninvasive prenatal paternity bloodtest, done with blood from alleged fathers, cfdna and 317.000 genetic markers a reliable test?

Yes: Make sure the identity of the alleged fathers and pregnant mother are confirmed. Make sure no tampering with the blood. Science can reveal the dna. ...Read more

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more