Supplemental Newborn Screen, Blood Spot - Mayo Clinic Laboratories Rochester

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
Analyte (assay platform)	Core condition	Secondary targets	Additional conditions/treatment detectable by MS/MS
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.

Genetics Test Information

This screening test includes all disorders recommended by the American College of Medical Genetics detectable by tandem mass spectrometry.(1)

Special Instructions

Method Name

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

Reporting Name

Supplemental Newborn Screen, BS

Specimen Type

Whole blood

Additional 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).

Specimen Minimum Volume

1 Blood spot

Specimen Stability Information

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

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Saturday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

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.