SNS - Overview: Supplemental Newborn Screen, Blood Spot

Test Catalog

Test ID: SNS    
Supplemental Newborn Screen, Blood Spot

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

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

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

MCAD1

GA-II1

MCKAT1

M/SCHAD1

 

C3-DC

 

MAL

 

C10:2

 

DR

 

C5-DC

GA-I

 

 

C14:1, C16, C18:1

VLCAD

CACT

CPT-I2

CPT-II

 

C16-OH

LCHAD2

TFP2

 

 

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

 

 

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Panel includes all disorders recommended by the American College of Medical Genetics detectable by Tandem Mass Spectrometry.(MS/MS)(1)

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

See Informative Markers for Supplemental Newborn Screening at Mayo Clinic in Special Instructions.

 

The following algorithms are available in Special Instructions:

-Newborn Screening Follow-up for Elevations of C8, C6, and C10 Acylcarnitines (also applies to any plasma C8, C6, and C10 acylcarnitine elevations)

-Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma C4 acylcarnitine elevation)

-Newborn Screening Follow-up for Isolated C5 Acylcarnitine Elevations (also applies to any plasma C5 acylcarnitine elevation)

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

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

Tandem Mass Spectrometry (MS/MS)

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

Yes

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Supplemental Newborn Screen, BS

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

Blood Spots
Expanded Newborn Screen, Blood Spot
Newborn Screen
Newborn Screening
Newborn Supplemental Screen, Blood Spot