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Test ID SNS Supplemental Newborn Screen, Blood Spot

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

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

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

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry (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 (T493)

Acceptable: Whatman Protein Saver 903 Paper, Ahlstrom 226 filter paper

Specimen Volume: 3 Blood spots

Collection Instructions:

1. Do not use device or capillary tube containing EDTA to collect specimen.

2. Do not expose specimen to heat or direct sunlight.

3. Do not stack wet specimens.

4. Keep specimen dry.

5. If collection of a new specimen is necessary, let blood dry on the Blood Spot Collection Card (T493) at ambient temperature in a horizontal position for 3 hours.

Additional Information:

1. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

2. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.


Specimen Minimum Volume

Blood Spots: 1

Specimen Stability Information

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

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Monday through Saturday; 9 a.m.

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. This test has not been cleared or approved by the U.S. Food and Drug Administration.

NY State Approved

Yes

Testing Algorithm

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)

Forms

If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.