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Sorted By Test Name - Mayo Medical Laboratories

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PALB<br />

9005<br />

FPRGA<br />

57110<br />

17PRN<br />

88646<br />

Reference Values:<br />

An interpretive report will be provided.<br />

Clinical References: 1. Buiting K: Prader-Willi syndrome and Angelman syndrome. Am J of Med<br />

Genet Part C 2010;154C:365-376 2. Williams CA, Beaudet AL, Clayton-Smith J, et al: Angelman<br />

syndrome 2005: updated consensus for diagnostic criteria. AM J Med Genet 2006:140A:413-418 3.<br />

Gunay-Aygun M, Schwartz S, Heeger S, et al: The changing purpose of Prader-Willi syndrome clinical<br />

diagnostic criteria and proposed revised criteria. Pediatrics 2001;108(5):e92 4. Nygren AOH, Ameziane<br />

N, Duarte HM, et al: Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG<br />

methylation and copy number changes of up to 40 sequences. Nucleic Acids Res 2005;33:128 5. Procter<br />

M, Chou L, Tang W, et al: Molecular diagnosis of Prader-Willi and Angelman syndromes by<br />

methylation-specific multiplex ligation-dependent probe amplification. Clin Chem 2006;52:1276-1283<br />

Prealbumin (PAB), Serum<br />

Clinical Information: Prealbumin is synthesized in the liver and acts as a binding protein for<br />

thyroxine and retinol-binding protein. The serum concentration of prealbumin reflects the synthesis<br />

capacity of the liver and is markedly diminished in malnutrition and other conditions. Due to its short<br />

half-life of approximately 2 days, prealbumin can be used for monitoring the nutritional status and<br />

efficacy of parenteral nutrition.<br />

Useful For: Assessing nutritional status, especially in monitoring the response to nutritional support in<br />

the acutely ill patient<br />

Interpretation: Values of 0 ng/dL to 5 mg/dL, 5 mg/dL to 10 mg/dL, and 10 mg/dL to 15 mg/dL<br />

indicate severe, moderate, and mild protein depletion.<br />

Reference Values:<br />

19-38 mg/dL<br />

Clinical References: 1. Haider M, Haider SQ: Assessment of protein-calorie malnutrition. Clin<br />

Chem 1984;30:1286-1299 2. Grant JP, Custer PB, Thurlow J: Current techniques of nutritional<br />

assessment. Surg Clin North Am 1981;61:437-463 3. Bernstein LH, Leukhardt-Fairfield CJ, Pleban W, et<br />

al: Usefulness of data on albumin and prealbumin concentrations in determining effectiveness of<br />

nutritional support. Clin Chem 1989;35:271-274 4. Kanakoudi F, Drossou V, Tzimouli V, et al: Serum<br />

concentrations of 10 acute-phase proteins in healthy term and pre-term infants from birth to age 6 months.<br />

Clin Chem 1995;41:605-608<br />

Pregabalin (Lyrica)<br />

Reference Values:<br />

Therapeutic and toxic ranges have not been established.<br />

Expected steady state pregabalin concentrations in patients<br />

taking recommended daily dosages: up to 10 ug/mL.<br />

<strong>Test</strong> Performed <strong>By</strong>: Medtox <strong>Laboratories</strong><br />

402 W. County Road D<br />

St. Paul, MN 55112<br />

Pregnenolone and 17-Hydroxypregnenolone<br />

Clinical Information: Congenital adrenal hyperplasia (CAH) is caused by inherited defects in steroid<br />

biosynthesis. Deficiencies in several enzymes cause CAH including 21-hydroxylase (CYP21A2<br />

mutations; 90% of cases), 11-hydroxylase (CYP11A1 mutations; 5%-8%), 3-beta-hydroxy dehydrogenase<br />

(HSD3B2 mutations;

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