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Test Catalog

Test ID: PMSBB    
Postmortem Screening, Bile and Blood Spot

Useful For Suggests clinical disorders or settings where the test may be helpful

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 Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Postmortem Screening Algorithm in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Electrospray Tandem Mass Spectrometry (MS/MS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Postmortem Screening

Aliases Lists additional common names for a test, as an aid in searching

Blood Spots
FAO Disorder Screening
Fatty Acid Oxidation Disorder Screen
Metabolic Autopsy
SIDS Evaluation
Sudden Death Evaluation
Sudden Unexpected Death Evaluation
Unexpected Death Evaluation
SUDI