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Test Name:
PerkinElmer Genetics' Postmortem Screen
- SBMF No:
33294 - Performance Lab Name:
PerkinElmer Genetics - Test Mnemonic:
POSTMORT - ABN:
N/A - CPT Code:
N/A - LOINC Code:
18743-5 - Also Known As:
Formerly known as "Pediatrix" Postmortem Screen - Spec Type:
Blood - Spec Container:
Filter Paper Spot card - Spec Collect:
Collected at autopsy
Fill each of the four circles on the filter paper with a single drop of blood
Do not layer successive drops
Apply blood to only one side of the filter paper
Make sure the blood has saturated through to the back of the filter paper - Spec Process:
Air-dry the filter paper on a flat surface for three to four hours
Do not heat, stack, or allow the blood spots on the filter paper to touch other surfaces during the drying process - Spec Store Transport:
Ship at room temperature
If specimen cannot be shipped same day, store in a plastic bag in a freezer (preferred) or refrigerator - Methodology:
Tandem Mass Spectrometry - Use:
Screening for genetic disorders of metabolism in cases of infant death - Clinical Significance:
Inborn Errors of Metabolism
A small percentage of sudden infant deaths are attributed to a genetic disorder of metabolism. These disorders are primarily a result of impairments of the b-oxidation of fatty acids and metabolism of organic acids. MCAD (Medium Chain Acyl-CoA dehydrogenase) deficiency is the most common of these inborn errors with a frequency of approximately 1:16,000 in the general population. Nearly one quarter of infants with MCAD deficiency will die suddenly. Approximately 35% will be hospitalized because of hypoglycemia, vomiting, lethargy, seizures and coma. The remainder may be at significant risk for developmental disability and chronic illness.PerkinElmer Genetics' Laboratory can screen for:
Congenital Adrenal Hyperplasia, Methymalonic Acidemias, Propionic Acidemia, Isovaleric Acidemia, Glutaric Acidemia Type I and over 10 other inborn errors in organic acid and fatty acid metabolism on a filter paper dried blood spot.The battery of tests involves the analysis of the enzymes, acylcarnitines, and hormones associated with the conditions listed. Various methodologies are employed including fluorescent and colormetric non-radioactive fully automated immunoassays, molecular analyses, and electrospray tandem mass spectrometry.
Testing & Screening
A highly accurate, low cost screening method is available to diagnose both fatty acid and organic acid metabolic disorders in the blood of infants. The method, know as tandem mass spectrometry, obtains a metabolic profile of fatty and organic acids bound to Carnitine, (Acylcarnitine profile), which easily detects these disorders in the blood of affected newborn infants and older children. This technology is also useful in screening autopsy blood samples for explaining suspected or unknown causes of death attributed to inborn errors of metabolism. - Reference Range:
By report - Day Run:
Varies - Test Type:
CHEMISTRY
