Sorted By Test Name - Mayo Medical Laboratories

NPM1
89292
should be considered. When alternative causes for elevated NTx have been excluded in an
osteopenia/osteoporosis patient, the patient must be considered at increased risk for accelerated
progression of osteopenia/osteoporosis. A 50% or greater reduction in this resorption marker 3 to 6
months after initiation of therapy indicates a probably adequate therapeutic response. The Negotiated
Rulemaking Committee of HCFA also recommends: "Because of significant specimen to specimen
collagen crosslink physiologic variability (15%-20%), current recommendations for appropriate
utilization include: 1 or 2 baseline assays from specified urine collections on separate days; followed by a
repeat assay about 3 months after starting antiresorptive therapy; followed by a repeat assay in 12 months;
thereafter not more than annually, if medically necessary." Patients with diseases such as
hyperthyroidism, which can be cured, should have a return of bone NTx levels to the reference range
within 3 to 6 months after complete cure.
Reference Values:
All units are reported in nmol Bone Collagen Equivalents/mmol creatinine.
Males
or =18 years: 21-66
Females
or =18 years: 19-63
Values are based on Mayo in-house studies of 75 children and adolescents age 3.5 to 18.5 and >100
adults.
Clinical References: 1. Harper KD, Weber TJ: Secondary osteoporosis. Diagnostic considerations.
Endocrinol Metab Clin North Am 1998;27:325-348 2. Miller PD, Baran DT, Bilezikian JP, et al: Practical
clinical application of biochemical markers of bone turnover: Consensus of an expert panel. J Clin
Densitom 1999;2(3):323-342 3. Delmas PD, Eastell R, Garnero P, et al: The use of biochemical markers
of bone turnover in osteoporosis. Committee of Scientific Advisors of the International Osteoporosis
Foundation. Osteoporos Int 2000;11(6):S2-S17 4. Harris SS, Soteriades E, Dawson-Hughes B, et al:
Secondary hyperparathyroidism and bone turnover in elderly blacks and whites. J Clin Endocrinol Metab
2001 August;86(8):3801-3804
Nucleophosmin (NPM1) Mutation Analysis
Clinical Information: Acute myelogenous leukemia (AML) is a heterogenous group of neoplasms.
While cytogenetic aberrations detected at the time of diagnosis are the most commonly used prognostic
feature, approximately 20% of AML cases show a normal karyotype, which is considered an
intermediate-risk feature. Within this group, FLT3 mutations are considered indicators of poor prognosis.
However, in the absence of a FLT3 mutation, the presence of a nucleophosmin (NPM1) mutation is
associated with good prognosis. Thus, in patients with newly diagnosed AML, those with normal
karyotype, no FLT3 mutation, and a NPM1 mutation are considered to have a better prognosis than
patients in the same group with neoplasms lacking a NPM1 mutation.
Useful For: As a prognostic indicator in patients with newly diagnosed acute myelogenous leukemia
with normal karyotype and no FLT3 mutation
Interpretation: The assay will be interpreted as positive or negative for the NPM1 mutation. In
patients with newly diagnosed acute myelogenous leukemia, a normal karyotype, and no FLT3 mutation,
the presence of NPM1 mutation is an indicator of good prognosis.
Reference Values:
An interpretive report will be provided.
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