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Test ID: NBSR Newborn Screen Recommended Panel, Blood Spot

Useful For

Presymptomatic identification of Recommended Uniform Screening Panel (RUSP) disorders only to allow for early initiation of treatment and consequent improvement in the long-term prognosis of affected patients

Testing Algorithm

First-tier results will be reviewed and second-tier screening performed at consultant discretion at no additional charge. This minimizes the false-positive rate and maximizes the positive predictive value of screening.

 

The following algorithms are available in Special Instructions:

-Newborn Screen Follow-up for Mucopolysaccharidosis Type I

-Newborn Screen Follow-up for Pompe Disease

-Newborn Screen Follow-up for Severe Combined Immunodeficiency Syndrome (SCID)

-Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry (MS/MS)/Immunoassay/Capillary Electrophoresis/Colorimetry/Fluorometry/Digital droplet Polymerase Chain Reaction (ddPCR)

Reporting Name

Newborn Scrn Recommended Panel, BS

Specimen Type

Blood Spot


Necessary Information


1. Birth weight (grams)

2. Time of birth (24 hour time)

3. Gestational age (weeks)



Specimen Required


To maximize the benefit of early identification the specimen should be collected as early as possible after 12 hours of age and before 1 week of age.

 

Supplies: Card - Blood Spot Collection (Filter Paper) (T493)

Container/Tube:

Preferred: Blood Spot Collection Card (T493)

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

Specimen Volume: 5 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:

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


Specimen Minimum Volume

3 completely filled circles on filter paper card

Specimen Stability Information

Specimen Type Temperature Time
Blood Spot Refrigerated (preferred) 7 days
  Frozen  14 days
  Ambient  7 days

Clinical Information

Newborn screening as a public health measure was initiated in the early 1960s for the identification of infants affected with phenylketonuria (PKU). Since then, additional genetic and nongenetic conditions were included in screening programs. The goal of newborn screening is to detect diagnostic markers of selected disorders in blood spots collected from presymptomatic newborns. Early identification of affected newborns allows for early initiation of treatment to avoid mortality, morbidity, and disabilities due to these disorders.

 

The US Secretary of Health and Human Services (HHS) recommends all programs screen for 34 core disorders (www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/). These conditions are considered to fulfill 3 basic principles:

-Condition is identifiable at a period of time (12-48 hours after birth) at which it would not ordinarily be clinically detected.

-Test with appropriate sensitivity and specificity is available.

-Demonstrated benefits of early detection, timely intervention, and efficacious treatment.

The 34 core disorders comprise the Recommended Uniform Screening Panel (RUSP).

 

Screening tests do not conclusively determine disease status, but measure analytes, which in most cases are not specific for a particular disease. This is the reason why the HHS Secretary also recognizes more than 25 additional conditions as secondary targets that do not meet all inclusion criteria, but are identified nevertheless because most of them are components of the differential diagnosis of screening results observed in core conditions. Even for the secondary conditions, the possibility of making a diagnosis early in life not only helps avoid unnecessary diagnostic testing, but is also beneficial to the patient's families because genetic counseling and prenatal diagnosis can be offered.

 

This test includes 32 of 34 core conditions* included in the RUSP and all secondary conditions listed with the RUSP. Our screening approach is designed to identify all newborns affected with at least the classic variants of the diseases, but is not expected to detect milder forms of these conditions (see table).

 

The NBSE / Newborn Screening Expanded Panel, Blood Spot includes the same testing as the this test, but also includes screening for an additional 4 lysosomal storage disorders (Krabbe, Fabry, Gaucher, and Niemann-Pick A/B diseases), guanidinoacetate methyltransferase (GAMT) deficiency, and glucose-6-phosphate dehydrogenase (G6PD) deficiency.

 

*This test does not screen for critical congenital heart disease and congenital hearing loss, both of which are tested in the nursery using methods other than blood spots (audiometry, pulse oximetry).

 

RUSP Core Conditions

Abbreviation

NBSR

NBSE

Method

Disease States

(result field)

Propionic acidemia

PROP

+

+

MS/MS

Organic acid disorders

Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency

MUT

+

+

MS/MS

Organic acid disorders

Methylmalonic acidemia, cblA type and cblB type

Cbl A,B

+

+

MS/MS

Organic acid disorders

Isovaleric acidemia

IVA

+

+

MS/MS

Organic acid disorders

3-Methylcrotonyl-CoA carboxylase 1 and 2 deficiency

3-MCC

+

+

MS/MS

Organic acid disorders

3-Hydroxy-3-methyglutaryl-CoA lyase deficiency

HMG

+

+

MS/MS

Organic acid disorders

Holocarboxylase synthetase deficiency

MCD

+

+

MS/MS

Organic acid disorders

Beta-ketothiolase deficiency

BetaKT

+

+

MS/MS

Organic acid disorders

Glutaric acidemia type I

GA1

+

+

MS/MS

Organic acid disorders

Carnitine deficiency, systemic primary

CUD

+

+

MS/MS

Fatty acid oxidation disorders

Medium-chain acyl-CoA dehydrogenase deficiency

MCAD

+

+

MS/MS

Fatty acid oxidation disorders

Very long-chain acyl-CoA dehydrogenase deficiency

VLCAD

+

+

MS/MS

Fatty acid oxidation disorders

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

LCHAD

+

+

MS/MS

Fatty acid oxidation disorders

Mitochondrial trifunctional protein deficiency

TFP

+

+

MS/MS

Fatty acid oxidation disorders

Argininosuccinic acidemia

ASA

+

+

MS/MS

Amino acid disorders

Citrullinemia, type I

CIT

+

+

MS/MS

Amino acid disorders

Maple syrup urine disease

MSUD

+

+

MS/MS

Amino acid disorders

Homocystinuria due to cystathionine beta-synthase deficiency

HCY

+

+

MS/MS

Amino acid disorders

Phenylketonuria

PKU

+

+

MS/MS

Amino acid disorders

Tyrosinemia, type I

TYR I

+

+

MS/MS

Amino acid disorders

Primary congenital hypothyroidism

CH

+

+

Immunoassay

Congenital hypothyroidism

Congenital adrenal hyperplasia

CAH

+

+

Immunoassay

Congenital adrenal hyperplasia

S,S disease (Sickle cell anemia)

Hb Sss

+

+

Capillary electrophoresis

Hemoglobinopathies

S, Beta-thalassemia

Hb S/betaTh

+

+

Capillary electrophoresis

Hemoglobinopathies

S,C disease

Hb S/C

+

+

Capillary electrophoresis

Hemoglobinopathies

Biotinidase deficiency

BIOT

+

+

Colorimetric assay

Biotinidase deficiency

Cystic fibrosis

CF

+

+

Immunoassay

Cystic fibrosis

Classic galactosemia

GALT

+

+

Colorimetric assay

Galactosemia

Severe combined immunodeficiences

SCID

+

+

ddPCR

Severe combined immune deficiency

Mucopolysaccharidosis type I

MPS I

+

+

MS/MS

Lysosomal storage

disorders

Glycogen storage disease type II (Pompe disease)

GSD II

+

+

MS/MS

Lysosomal storage

disorders

Adrenoleukodystrophy

X-ALD

+

+

MS/MS

X-linked adrenoleukodystrophy

RUSP Secondary Conditions

Methylmalonic acidemia and homocystinemia (Cbl C, D)

Cbl C,D

+

+

MS/MS

Organic acid disorders

Malonyl-CoA decarboxylase deficiency

MAL

+

+

MS/MS

Organic acid disorders

Isobutyryl-CoA dehydrogenase deficiency

IBG

+

+

MS/MS

Organic acid disorders

2-Methylbutyryl-CoA dehydrogenase deficiency

2MBG

+

+

MS/MS

Organic acid disorders

2-Methyl-3-hydroxybutyric aciduria

2M3HBA

+

+

MS/MS

Organic acid disorders

3-Methylglutaconic acidemia

3MGA

+

+

MS/MS

Organic acid disorders

Short-chain acyl-CoA dehydrogenase deficiency

SCAD

+

+

MS/MS

Fatty acid oxidation disorders

Medium/short-chain 3-hydroxyacl-CoA dehydrogenase deficiency

M/SCHAD

+

+

MS/MS

Fatty acid oxidation disorders

Glutaric acidemia type II (Multiple acyl-CoA dehydrogenase deficiency)

GA2

+

+

MS/MS

Fatty acid oxidation disorders

Medium-chain 3-ketoacyl-CoA thiolase deficiency

MCAT

+

+

MS/MS

Fatty acid oxidation disorders

2,4-Dienoyl-CoA reductase deficiency

DE RED

+

+

MS/MS

Fatty acid oxidation disorders

Carnitine palmitoyltransferase type I deficiency

CPT IA

+

+

MS/MS

Fatty acid oxidation disorders

Carnitine palmitoyltransferase type II deficiency

CPT II

+

+

MS/MS

Fatty acid oxidation disorders

Carnitine-acylcarnitine translocase deficiency

CACT

+

+

MS/MS

Fatty acid oxidation disorders

Argininemia

ARG

+

+

MS/MS

Amino acid disorders

Citrullinemia, type II

CIT II

+

+

MS/MS

Amino acid disorders

Hypermethioninemia

MET

+

+

MS/MS

Amino acid disorders

Benign hyperphenylalaninemia

H-PHE

+

+

MS/MS

Amino acid disorders

Biopterin defect in cofactor biosynthesis or regeneration

BIOPT (BS/REG)

+

+

MS/MS

Amino acid disorders

Tyrosinemia, type II

TYR II

+

+

MS/MS

Amino acid disorders

Tyrosinemia, type III

TYR III

+

+

MS/MS

Amino acid disorders

Various other hemoglobinopathies

Var Hb

+

+

Capillary electrophoresis

Hemoglobinopathies

Galactose epimerase deficiency

GALE

+

+

Colorimetric assay

Galactosemia

Galactokinase deficiency

GALK

+

+

Colorimetric assay

Galactosemia

T-cell related lymphocyte deficiencies

SCID

+

+

ddPCR

Severe combined immune deficiency

Peroxisomal acyl-CoA oxidase deficiency

Acyl-CoAOx

+

+

MS/MS

X-linked adrenoleukodystrophy

D-bifunctional protein deficiency

BFP

+

+

MS/MS

X-linked adrenoleukodystrophy

Other conditions included or considered by individual states/countries

Peroxisome biogenesis disorders (Zellweger spectrum disorders)

PBD

+

+

MS/MS

X-linked adrenoleukodystrophy

Methylmalonic acidemia and homocystinuria, cbl D type

Cbl D-var1

+

+

MS/MS

Organic acid disorders

Homocystinuria-Megaloblastic anemia, cbl E type

Cbl E

+

+

MS/MS

Organic acid disorders

Homocystinuria-Megaloblastic anemia, cbl G type

Cbl G

+

+

MS/MS

Organic acid disorders

Homocystinuria due to MTHFR deficiency

MTHFR

+

+

MS/MS

Amino acid disorders

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

G6PD

-

+

Fluorometric

G6PD deficiency

Fabry disease

Fabry

-

+

MS/MS

Lysosomal storage disorders

Gaucher disease

Gaucher

-

+

MS/MS

Lysosomal storage disorders

Niemann-Pick Disease, type A and type B

NPA/B

-

+

MS/MS

Lysosomal storage disorders

Krabbe disease

Krabbe

-

+

MS/MS

Lysosomal storage disorders

Guanidinoacetate Methyltransferase (GAMT) deficiency

GAMT**

 -

+

MS/MS

Disorders of creatine metabolism

**Other creatine deficiency disorders may be detected.

 

NBSE= Newborn Screening Expanded Panel, Blood Spot

NBSR= Newborn Screen Recommended Panel, Blood Spot

MS/MS= Tandem Mass Spectrometry

ddPCR= Digital Droplet Polymerase Chain Reaction

MTHFR=Methylenetetrahydrofolate Reductase

 

Recommendations for testing to follow up on abnormal NBSR results can be found at www.acmg.net - ACT Sheets. For lysosomal storage disease and XALD ACT sheets, please see Special Instructions.

Reference Values

Negative

Interpretation

An interpretive report is provided.

 

The quantitative measurements of informative metabolites and related ratios and their bioinformatics evaluation using the Collaborative Laboratory Integrated Reports (CLIR) system support the initial interpretation of the complete profile and may suggest the need to perform the measurement of more specific biomarkers using the original newborn screen specimen (second-tier test). Nevertheless, abnormal results are not sufficient to conclusively establish a diagnosis of a particular disease. To verify a preliminary diagnosis, independent biochemical (ie, in vitro enzyme assay) or molecular genetic analyses are required, many of which are offered within Mayo Clinic's Division of Laboratory Genetics and Genomics.

 

The reports are in text form only. In a case with a completely normal profile, where the interpretation is reported as negative for all of the listed groups of conditions, no values are provided. A report for an abnormal screening result includes a quantitative result for the relevant abnormal biomarkers including those of a second-tier test when applicable, the CLIR score indicating the similarity of the newborn’s results to those derived from known patients with the relevant disease, a detailed interpretation of the results, and recommendations for additional biochemical testing and confirmatory studies (enzyme assay, molecular analysis).

Clinical Reference

1. Watson MS, Mann MY, Lloyd-Puryear MA, et al: Newborn Screening: toward a uniform screening panel and system. Genet Med 2006;8(5):1S-11S

2. Rinaldo P, Zafari S, Tortorelli S, Matern D: Making the case for objective performing metrics in newborn screening by tandem mass spectrometry. MRDD Res Rev 2006;12:255-261

3. Matern D, Tortorelli S, Oglesbee D, et al: Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The Mayo Clinic experience (2004-2007). J Inherit Metab Dis 2007;30(4):585-592

4, McHugh D, Cameron CA, Abdenur JE, et al: Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med 2011;13:230-254

5. Marquardt G, Currier R, McHugh DM, et al: Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med 2012;14:648-655

6. Hall PL, Marquardt G, McHugh DM, et al. Post-analytical tools improve performance of newborn screening by tandem mass spectrometry. Genet Med 2014;16:889-895

7. Matern D, Gavrilov D, Oglesbees D, et al: Newborn screening for lysosomal storage disorders. Semin Perinatol 2015 Apr;39(3):206-216

8. Tortorelli S, Turgeon CT, Gavrilov DK, et al: Simultaneous testing for 6 lysosomal storage disorders and X-adrenoleukodystrophy in dried blood spots by tandem mass spectrometry. Clin Chem 2016;62(9):1248-1254

9. Turgeon C, Magera MJ, Allard P, et al. Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clin Chem 2008;54:657-664

Day(s) and Time(s) Performed

Monday through Sunday; Varies

Analytic Time

3 days

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.

CPT Code Information

83789 -Mass spectrometry and tandem mass spectrometry (eg, MS, MS/MS, MALDI, MS-TOF, QTOF), non-drug analyte(s) not elsewhere specified, qualitative or quantitative, each specimen

82261 - Biotinidase, each specimen

83498 – Hydroxyprogesterone, 17-d

84443 - Thyroid stimulating hormone (TSH)

84436 - Thyroxine; total

83516 - Immunoassay for analyte other than infectious agent antibody or infectious agent antigen; qualitative or semiquantitative, multiple step method

82776 - Galactose-1-phosphate uridyl transferase; screen

82760 - Galactose

83020 - Hemoglobin fractionation and quantitation; electrophoresis (eg, A2, S, C, and/or F)

81479 - Unlisted molecular pathology procedure

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NBSR Newborn Scrn Recommended Panel, BS In Process

 

Result ID Test Result Name Result LOINC Value
48082 Interpretation In Process
BG696 Birth Weight (grams, XXXX) 8339-4
BG697 Time of Birth (24hr time, XX:XX) 57715-5
BG698 Gestational Age (weeks, XX.X) 76516-4
48069 Congenital hypothyroidism In Process
48070 Congenital adrenal hyperplasia In Process
48071 Biotinidase deficiency In Process
48072 Galactosemia In Process
48073 Cystic fibrosis In Process
48074 Severe combined immunodeficiencies In Process
48075 Hemoglobinopathies In Process
48076 Amino acid disorders In Process
48077 Organic acid disorders In Process
48078 Fatty acid oxidation disorders In Process
48079 Pompe disease In Process
48080 Mucopolysaccharidosis type I In Process
48081 X-linked adrenoleukodystrophy In Process
48068 Reviewed by In Process
Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

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