Mayo Test Catalog, (Sorted By Test Name) - Mayo Medical ...

PALB
9005
FPRGA
57110
methylation defects. In cases where methylation-sensitive MLPA suggests either deletion or duplication,
FISH can be used to confirm type I and type II deletions or characterize the disease mechanism,
respectively. In cases where methylation-sensitive MLPA suggests abnormal methylation in the absence
of a deletion or duplication, UPD studies can be used to characterize the disease mechanism. Assessment
of patients found to have a deletion in the PWS/AS critical region on routine cytogenetic analysis includes
confirmation of the deletion by FISH analysis and MLPA analysis to define parent of origin. See
Prader-Willi and Angelman Syndromes: Laboratory Approach to Diagnosis in Special Instructions for
additional information.
Useful For: Confirmation of diagnosis in patients suspected of having either Prader-Willi syndrome
(PWS) or Angelman syndrome (AS) based on clinical assessment or previous laboratory analysis
Prenatal diagnosis in families at risk for PWS/AS
Interpretation: An interpretive report will be provided.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Buiting K: Prader-Willi syndrome and Angelman syndrome. Am J of Med
Genet Part C 2010;154C:365-376 2. Williams CA, Beaudet AL, Clayton-Smith J, et al: Angelman
syndrome 2005: updated consensus for diagnostic criteria. AM J Med Genet 2006:140A:413-418 3.
Gunay-Aygun M, Schwartz S, Heeger S, et al: The changing purpose of Prader-Willi syndrome clinical
diagnostic criteria and proposed revised criteria. Pediatrics 2001;108(5):e92 4. Nygren AOH, Ameziane
N, Duarte HM, et al: Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG
methylation and copy number changes of up to 40 sequences. Nucleic Acids Res 2005;33:128 5. Procter
M, Chou L, Tang W, et al: Molecular diagnosis of Prader-Willi and Angelman syndromes by
methylation-specific multiplex ligation-dependent probe amplification. Clin Chem 2006;52:1276-1283
Prealbumin (PAB), Serum
Clinical Information: Prealbumin is synthesized in the liver and acts as a binding protein for
thyroxine and retinol-binding protein. The serum concentration of prealbumin reflects the synthesis
capacity of the liver and is markedly diminished in malnutrition and other conditions. Due to its short
half-life of approximately 2 days, prealbumin can be used for monitoring the nutritional status and
efficacy of parenteral nutrition.
Useful For: Assessing nutritional status, especially in monitoring the response to nutritional support
in the acutely ill patient
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
indicate severe, moderate, and mild protein depletion.
Reference Values:
19-38 mg/dL
Clinical References: 1. Haider M, Haider SQ: Assessment of protein-calorie malnutrition. Clin
Chem 1984;30:1286-1299 2. Grant JP, Custer PB, Thurlow J: Current techniques of nutritional
assessment. Surg Clin North Am 1981;61:437-463 3. Bernstein LH, Leukhardt-Fairfield CJ, Pleban W,
et al: Usefulness of data on albumin and prealbumin concentrations in determining effectiveness of
nutritional support. Clin Chem 1989;35:271-274 4. Kanakoudi F, Drossou V, Tzimouli V, et al: Serum
concentrations of 10 acute-phase proteins in healthy term and pre-term infants from birth to age 6
months. Clin Chem 1995;41:605-608
Pregabalin (Lyrica)
Reference Values:
Therapeutic and toxic ranges have not been established.
Expected steady state pregabalin concentrations in patients
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