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Test ID PMSBB Postmortem Screening, Bile and Blood Spot

Useful For

Postmortem evaluation of individuals at any age who died suddenly or unexpectedly; testing is particularly recommended under the following circumstances (risk factors):

-Family history of sudden infant death syndrome or other sudden unexpected deaths at any age

-Family history of Reye syndrome

-Maternal complications of pregnancy (acute fatty liver pregnancy, HELLP syndrome [hemolysis, elevated liver enzymes, and low platelet count])

-Lethargy, vomiting, fasting in the 48 hours prior to death

-Allegation of child abuse (excluding obvious cases of trauma, physical harm)

Macroscopic findings at autopsy:

-Fatty infiltration of the liver

-Dilated or hypertrophic cardiomyopathy

-Autopsy evidence of infection that routinely would not represent a life-threatening event

Genetics Test Information

Acylcarnitine analysis in blood and bile specimens to evaluate cases of sudden or unexpected death. Confirmatory enzymatic and molecular studies of cultured fibroblasts may be recommended.

Highlights

Analysis of acylcarnitines in blood and bile spots represents the first level of evaluation of a complete postmortem investigation of a sudden or unexpected death of an individual at any age.

 

Analysis facilitates the diagnosis of over 20 inborn errors of metabolism including fatty acid oxidation disorders and organic acidurias.

 

Abnormal results are not always sufficient to conclusively establish a diagnosis of a particular disease. When abnormal results are obtained, additional confirmatory testing is recommended.

 

Detailed reports for abnormal acylcarnitine profiles are provided that include an overview of the results and recommendations for follow-up.

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

Reporting Name

Postmortem Screening

Specimen Type

Whole blood


Necessary Information


Request the original newborn screening card from the state laboratory where the decedent was born. See Request for Original Newborn Screening Card. Provide patient name, date and time of birth and death, suspected cause of death, circumstances of death, relevant family history, and date and time of sample collection.

 

Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.



Specimen Required


Both bile and blood spots are required.

 

Supplies: Card-Postmortem Screening (Filter Paper) (T525)

Container/Tube:

Preferred: Card-Postmortem Screening Card (Filter Paper)

Acceptable: Whatman Protein Saver 903 paper or local newborn screening card

Specimen Volume: Properly completed screening card

Collection Instructions:

1. Collect blood in a heparin-containing tube and drop 25 mcL of blood onto the 2 circles labeled Blood.

2. Collect bile by direct puncture of the gallbladder and drop 25 mcL of bile onto the 2 circles labeled Bile.

3. Allow to dry at ambient temperature in a horizontal position for a minimum of 3 hours.

4. Fill out information on page 2 of collection card.

5. Do not expose specimen to heat or direct sunlight.

6. Do not stack wet specimens.

7. Keep specimen dry.


Specimen Minimum Volume

Bile spot: 1; Blood spot: 1

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Ambient (preferred) FILTER PAPER
  Frozen  FILTER PAPER
  Refrigerated  FILTER PAPER

Reference Values

Quantitative results are compared to a constantly updated range which corresponds to the 5 to 95 percentile interval of all postmortem cases analyzed in our laboratory.

Day(s) Performed

Wednesday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

83789

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PMSBB Postmortem Screening In Process

 

Result ID Test Result Name Result LOINC Value
22675 Specimen 31208-2
22676 Specimen ID 57723-9
22677 Source 31208-2
22678 Order Date 82785-7
22679 Reason For Referral 42349-1
22680 Method 85069-3
22684 Results In Process
81931 Interpretation 59462-2
22681 Amendment 48767-8
22682 Reviewed By 18771-6
22683 Release Date 82772-5

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

Report Available

7 to 16 days

NY State Approved

Yes

Forms

If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.