07.01.2013 Views

Sorted By Test Name - Mayo Medical Laboratories

Sorted By Test Name - Mayo Medical Laboratories

Sorted By Test Name - Mayo Medical Laboratories

SHOW MORE
SHOW LESS

You also want an ePaper? Increase the reach of your titles

YUMPU automatically turns print PDFs into web optimized ePapers that Google loves.

CA19<br />

9288<br />

CDG<br />

89891<br />

Carbohydrate Antigen 19-9 (CA 19-9), Serum<br />

Clinical Information: Carbohydrate antigen 19-9 (CA 19-9) is a modified Lewis(a) blood group<br />

antigen. CA 19-9 may be elevated in patients with gastrointestinal malignancies such as<br />

cholangiocarcinoma, pancreatic cancer, or colon cancer.<br />

Useful For: Potentially useful adjunct for diagnosis and monitoring of pancreatic cancer May be used<br />

for differentiating patients with cholangiocarcinoma and primary sclerosing cholangitis (PSC) from those<br />

with PSC alone<br />

Interpretation: Serial monitoring of carbohydrate antigen 19-9 (CA 19-9) should begin prior to<br />

therapy to verify post-therapy decreases in CA 19-9 and to establish a baseline for evaluating possible<br />

recurrence. Single values of CA 19-9 are less informative. Elevated values may be caused by a variety of<br />

malignant and nonmalignant conditions including cholangiocarcinoma, pancreatic cancer, and/or colon<br />

cancer.<br />

Reference Values:<br />

1mo), and in liver disease, the Apo-CIII2 may be<br />

increased. In children younger than 6 months and clinically suspected of having ATP6V0A2-CDG may<br />

have normal transferrin profile with abnormal Apo-CIII profile. CDG typically present as multisystemic<br />

disorders with a broad clinical spectrum including: developmental delay, hypotonia, with or without<br />

neurological abnormalities, abnormal magnetic resonance imaging findings, skin manifestations, and<br />

coagulopathy. There is considerable variation in the severity of this group of diseases, ranging from<br />

hydrops fetalis to a mild presentation in adults. In some subtypes (Ib, in particular), intelligence is not<br />

compromised. CDGs should be suspected in all patients with developmental delay, unexplained liver<br />

dysfunction, abnormal subcutaneous fat distribution may or may not be present in all cases, stroke-like<br />

episodes, unexplained hypoglycemia, liver disease, and with or without chronic diarrhea. The differential<br />

diagnosis of abnormal transferrin patterns also includes liver disease not related to CDG including<br />

uncontrolled galactosemia, hereditary fructose intolerance in acute crisis, and liver disease of unexplained<br />

etiology. Transferrin and apolipoprotein CIII isoform analysis test is the initial screening test for CDG.<br />

The results of the transferrin and apolipoprotein CIII isoform analysis should be correlated with the<br />

clinical presentation to determine the most appropriate testing strategy including enzyme, molecular and<br />

research based testing. If either CDG-Ia or CDG-Ib are suspected, it should be followed by enzymatic<br />

analysis for phosphomannomutase and phosphomannose isomerase in leukocytes or fibroblasts<br />

(PMMIL/PMMIF).<br />

Useful For: Screening* test for congenital disorders of glycosylation *Positive test could be due to a<br />

genetic or non-genetic condition. Additional confirmatory testing is required.<br />

Interpretation: Results are reported as the mono-oligosaccharide/di-oligosaccharide transferrin ratio.<br />

Current as of January 4, 2013 7:15 pm CST 800-533-1710 or 507-266-5700 or <strong>Mayo</strong><strong>Medical</strong><strong>Laboratories</strong>.com Page 370

Hooray! Your file is uploaded and ready to be published.

Saved successfully!

Ooh no, something went wrong!