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Lab Dept:
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Anatomic Pathology
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Test Name:
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POSTMORTEM SCREENING
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General Information
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Lab Order Codes:
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PMSB
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Synonyms:
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SIDS evaluation; Metabolic autopsy; FAO Disorder screening
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CPT Codes:
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83788 – Mass spectrometry and tandem mass spectrometry
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Test Includes:
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Reports of abnormal acylcarnitine profiles.
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Logistics
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Test Indications:
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Useful for Postmortem evaluation of infants or children who have died suddenly or unexpectedly. Testing is particularly recommended under the following circumstances: Family history of sudden infant death syndrome (SIDS) or other sudden unexpected deaths; Family history or Reye syndrome; Maternal complications of pregnancy; Lethargy, vomiting, fasting in the 48hrs prior to death; Allegation of child abuse; Macroscopic findings at autopsy (Fatty infiltration of the liver, Dilated or hypertrophic cardiomyopathy); or Autopsy evidence of infection that routinely would not represent a life-threatening event.
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Lab Testing Sections:
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Chemistry - Sendouts
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Referred to:
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Mayo Medical Laboratories (Test# 81931)
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Phone Numbers:
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MIN Lab: 612-813-6280
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STP Lab: 651-220-6550
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Test Availability:
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Daily, 24 hours
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Turnaround Time:
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2 - 16 days
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Special Instructions:
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See Collection
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Specimen
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Specimen Type:
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Blood and bile
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Container:
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Heparin-containing tube for blood, Mayo Supply T525
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Draw Volume:
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50 uL of blood and 50 uL of bile (Minimum: 25 uL blood and 25 uL bile)
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Processed Volume:
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N/A
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Collection:
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Collect blood in a heparin-containing tube and collect bile by direct puncture of the gallbladder. Use Mayo Medical Laboratories “Postmortem Screening Card” (supply T525). Drop 25 uL of blood onto each circle on 1 end of the card. Drop 25 uL of bile onto each circle on the opposite end of the card. Allow the card to dry at ambient temperature in a horizontal position for 3 or more hours. Fill out information on page 2 of collection card.
- Do not expose specimen to heat or direct sunlight.
• Do not stack wet specimens.
• Keep specimen dry.
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Special Processing:
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Lab Staff: Store and ship at room temperatures. Forward promptly.
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Patient Preparation:
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None
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Sample Rejection:
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Specimens other than blood and bile spots
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Interpretive
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Reference range:
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Quantitative results are compared to a constantly updated range, which corresponds to the 5-95 percentile interval of all postmortem cases brought to our attention.
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Critical Values:
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N/A
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Limitations:
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Both blood and bile specimens must be collected in order to detect and independently confirm the largest possible number of disorders.
In cases with a higher suspicion due to the recognition of 1 or more risk factors, collection of frozen liver and skin biopsy is also recommended for further testing and enzymatic/molecular studies.
In comparison to living individuals, profiles of postmortem blood specimens generally show a nonspecific increase of short chain species.
Patients with secondary carnitine deficiency may display uninformative acylcarnitine profiles in blood, but not in bile.
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Methodology:
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Electrospray Tandem Mass Spectrometry (MS/MS)
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References:
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Mayo Medical Laboratories Web Page February 2012
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