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HelpTest Code SNS Supplemental Newborn Screen, Blood Spot
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Reporting Name
Supplemental Newborn Screen, BSSpecimen Type
Whole bloodAdditional Testing Requirements
A repeat specimen is required within 1 week of birth for infants tested before they are 12 hours old.
Specimen Required
Patient must be older than 12 hours and less than 1 week of age.
Supplies: Card-Blood Spot Collection Filter Paper (T493)
Preferred: Blood Spot Collection Card
Acceptable: Whatman Protein Saver 903 Paper, Munktell, PerkinElmer 226 filter paper, or local newborn screening card
Specimen Volume: 3 Blood spots
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 Information:
1. For collection instructions, see Blood Spot Collection Instructions.
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777).
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800).
Reject Due To
| Blood spot specimen that shows serum rings or has multiple layers | Reject |
| Insufficient specimen | Reject |
| Unapproved filter papers | Reject |
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Ambient (preferred) | FILTER PAPER | |
| Frozen | FILTER PAPER | ||
| Refrigerated | FILTER PAPER | ||
Specimen Minimum Volume
1 Blood spot
Special Instructions
- Request for Original Newborn Screening Card
- Blood Spot Collection Card-Spanish Instructions
- Blood Spot Collection Card-Chinese Instructions
- Blood Spot Collection Instructions
- Newborn Screen Follow-up for Isolated Elevation of C3-DC
- Newborn Screen Follow-up for Elevated C5-DC
- Newborn Screen Follow-up for Elevated C5-OH
- Newborn Screen Follow-up for Isolated Elevation of C3
- Newborn Screen Follow-up for Decreased Free Carnitine (C0)
- Newborn Screen Follow-up for Elevated C14:1 ± Other Long-Chain Acylcarnitine
- Newborn Screen Follow-up for Elevated C16 ± C18:1 Acylcarnitines
- Newborn Screen Follow-up for Elevated C8 Acylcarnitine with Lesser Elevations of C6 and C10 Acylcarnitines
- Newborn Screen Follow-up for Elevated C0; Elevated C0/(C16+C18)
- Newborn Screen Follow-up for Elevated C16-OH ± C18-OH
- Newborn Screen Follow-up for Elevated C4 and C5 Acylcarnitine ±Other Elevated Acylcarnitines
- Newborn Screen Follow-up for Elevated C4-OH Acylcarnitine
Day(s) Performed
Monday through Saturday
Specimen Retention Time
2 yearsReport Available
2 to 3 daysReference Values
An interpretive report will be provided.
Useful For
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) as described here.
|
Analyte (assay platform) |
ACMG recommended conditions |
Additional conditions/treatment detectable by MS/MS |
|
|
Core condition |
Secondary targets |
||
|
Amino acids (MS/MS) |
|||
|
Phe |
PKU |
BS HPA REG |
TPN |
|
Leu/Ile, Val |
MSUD |
|
TPN |
|
Met |
HCY |
Met |
TPN, nonspecific liver disease |
|
Cit, Arg, ASA |
ASA CIT |
ARG CIT-II |
|
|
Tyr |
TYR-I |
TYR-II TYR-III |
Nonspecific liver disease |
|
GUAC |
GAMT |
|
|
|
Acylcarnitines (MS/MS) |
|||
|
C0 |
CUD |
|
Maternal CUD, maternal GA-I, maternal MCAD |
|
C3 |
CblA, Cbl B MUT PA |
Cbl C, Cbl D |
|
|
C4 |
|
IBDH SCAD |
FIGLU |
|
C5 |
IVA |
SBCAD |
Antibiotics containing pivalic acid |
|
C5-OH |
BKT HMG MCC MCD |
MGA-I MHBD |
Maternal MCC, biotinidase deficiency |
|
C8 |
MCAD |
GA-II MCKAT M/SCHAD |
|
|
C3-DC |
|
MAL |
|
|
C10:2 |
|
DR |
|
|
C5-DC |
GA-I |
|
|
|
C14:1, C16, C18:1 |
VLCAD |
CACT CPT-I CPT-II |
|
|
C16-OH |
LCHAD TFP |
|
|
|
m/z 225<399<473 |
|
|
Dextrose infusion |
|
m/z 342 (C8:1) |
|
|
Artifact often observed in premature neonates |
|
m/z 470 (C16:1OH) |
|
|
Cefotaxime metabolite |
|
Succinylacetone |
TYR-I |
|
|
This test is not appropriate for metabolic screening of symptomatic patients.
Testing Algorithm
For more information see:
-Newborn Screen Follow-up for Elevated C5-DC
-Newborn Screen Follow-up for Isolated Elevation of C3-DC
-Newborn Screen Follow-up for Elevated C5-OH
-Newborn Screen Follow-up for Isolated Elevation of C3
-Newborn Screen Follow-up for Elevated C14:1 ± Other Long-Chain Acylcarnitine
-Newborn Screen Follow-up for Decreased Free Carnitine (C0)
-Newborn Screen Follow-up for Elevated C16 ± C18:1 Acylcarnitines
-Newborn Screen Follow-up for Elevated C0; Elevated C0/(C16+C18)
-Newborn Screen Follow-up for Elevated C16-OH ± C18-OH
-Newborn Screen Follow-up for Elevated C4-OH Acylcarnitine
-Newborn Screen Follow-up for Elevated C4 and C5 Acylcarnitine ±Other Elevated Acylcarnitines
CPT Code Information
83789
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| SNS | Supplemental Newborn Screen, BS | 54089-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 82594 | Supplemental Newborn Screen Result | 54089-8 |
| 23727 | Reviewed By | 18771-6 |
Genetics Test Information
This screening test includes all disorders recommended by the American College of Medical Genetics detectable by tandem mass spectrometry.(1)
Supportive Data
The performance of Mayo Clinic's supplemental newborn screening program is characterized by a very low false-positive rate of 0.024% and a high-positive predictive value of 69%. The positive detection rate is one affected case in 1735 babies screened (n=742,449).
Disease States
- Homocystinuria
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.