Supplemental Newborn Screen, Blood Spot
Use
Presymptomatic identification of disorders to allow for early initiation of treatment and consequent improvement in the long-term prognosis of affected patients. The conditions identifiable by amino acid and acylcarnitine analysis are detected by supplemental newborn screening using tandem mass spectrometry (MS/MS).
Special Instructions
Patient must be older than 24 hours and less than 1 week of age. For collection instructions, see Blood Spot Collection Instructions available in English, Spanish, and Chinese. If an infant is tested before 24 hours of life, repeat testing on another specimen collected within 1 week of birth is required. Do not use device or capillary tube containing EDTA to collect specimen.
Limitations
This test is not appropriate for metabolic screening of symptomatic patients. The test includes disorders recommended by the American College of Medical Genetics detectable by tandem mass spectrometry.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 Blood spots
Minimum Volume
1 Blood spot
Container
Blood Spot Collection Card
Collection Instructions
1. Do not use device or capillary tube containing EDTA to collect specimen. 2. Completely fill at least 3 circles on the filter paper card (approximately 100 microliters blood per circle). 3. Let blood dry on the Blood Spot Collection Card at ambient temperature in a horizontal position for 3 hours. 4. Do not expose specimen to heat or direct sunlight. 5. Do not stack wet specimens. 6. Keep specimen dry. Additional instructions available in Blood Spot Collection Instructions PDF.
Causes for Rejection
Blood spot specimen that shows serum rings or has multiple layers; Insufficient specimen; Unapproved filter papers
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |