Test directory: Newborn Screening Panel

Ordering Code 5844
Test Name Newborn Screening Panel
Preferred Specimen Blood Spots
Preferred Container Filter paper provided by Washington State Dept of Health
Optimum Volume 5 completely filled spots (enough for entire screening panel)
Collection Instructions Newborn collections are performed at QMC PB, NHCH, or MGH
1. Collect specimen prior to discharge from hospital or by seven days of age, whichever comes first
2. To prevent contamination, DO NOT touch any part of the filter paper circles before, during or after collection
3. For puncture: wipe away the first drop of blood. Allow sufficient blood to collect on the heel to fill each circle by a single application of paper to a drop of blood
4. Apply only from one side of the filter paper. Blood should soak all the way through the paper such that the blood spots look similar on both sides. The entire circle should be saturated
5. DO NOT superimpose the blood drops on top of each other or oversaturate circle.
Handling Instructions Air dry the blood specimens at room temperature for 3-4 hours in a horizontal position. DO NOT dry on a heater or microwave. Mail to Washington State Department of Health within 24 hours of collection. DO NOT batch specimens collected on separate days.
Transport Requirements Oahu: Ambient
Airline: Ambient
Specimen Stability Ambient: 5 days
Refrigerated: Not Stable
Frozen: Not Stable
Rejection Criteria Frozen, Exposure to heat, Oversaturated or scratched filter paper circles, Filter paper circles incompletely filled or not saturated.
Avail. Stat NO
Analytic Time 7 Days
Methodology Tandem mass spectrometry (MS/MS); fluorometric assay; fluoroimmunoassay; digital microfluidics; colorimetry; isoelectric focusing (IEF); High Performance Liquid
Chromatography (HPLC); quantitative polymerase chain reaction (qPCR)
Reference Lab  Washington Newborn Screening Laboratory

Reference range(s)

The reference ranges listed below are valid on this date of June 29, 2025.
Component Age Male Norm Male Critical Low Male Critical High Female Norm Female Critical High Female Critical Low Units Add'l info
Congen Adrenal Hyperplasia (17-OHP) ALL NORMAL FINDINGS NORMAL FINDINGS
Congenital Hypothyroidism (TSH) ALL NORMAL FINDINGS NORMAL FINDINGS
Cystic Fibrosis (IRT) ALL NORMAL FINDINGS NORMAL FINDINGS
Hemoglobinopathy ALL NORMAL FINDINGS NORMAL FINDINGS
Biotinidase ALL NORMAL FINDINGS NORMAL FINDINGS
Galactosemia ALL NORMAL FINDINGS NORMAL FINDINGS
Amino Acid Profile ALL NORMAL FINDINGS NORMAL FINDINGS
Organic Acid Profile ALL NORMAL FINDINGS NORMAL FINDINGS
Fatty Acid Profile ALL NORMAL FINDINGS NORMAL FINDINGS
Severe Combined Immunodeficiency ALL NORMAL FINDINGS NORMAL FINDINGS
Glycogen Storage Disorder type II ALL NORMAL FINDINGS NORMAL FINDINGS
Mucopolysaccharidosis type I ALL NORMAL FINDINGS NORMAL FINDINGS
X-linked adrenoleukodystrophy ALL NORMAL FINDINGS NORMAL FINDINGS
Spinal Muscular Atrophy ALL NORMAL FINDINGS NORMAL FINDINGS
*Based on child's... *Based on child's age, birthweight or transfusion status

Please refer to separate report from Washington State
Department of Health for appropriate reference ranges

Normal Findings for SMA based on DNA analysis of the most common disease-causing deletion. Approximately 5% of SMA cases have a point mutation not detected by this screen
Clinical suspicion of SMA should prompt diagnostic evaluation regardless of newborn screening results

The Biotinidase test, SCID test, and analytes screened by
Tandem Mass Spectrometry were developed and their performance characteristics determined by the State of
Washington Public Health Laboratories/ Newborn Screening
Section. They have not been cleared or approved by the FDA
The laboratory is regulated under CLIA as qualified to perform high-complexity testing. These tests are used for screening purposes. They should not be regarded as investigational or for research
Note1

Note1:

*Based on child's age, birthweight or transfusion status

Please refer to separate report from Washington State
Department of Health for appropriate reference ranges

Normal Findings for SMA based on DNA analysis of the most common disease-causing deletion. Approximately 5% of SMA cases have a point mutation not detected by this screen
Clinical suspicion of SMA should prompt diagnostic evaluation regardless of newborn screening results

The Biotinidase test, SCID test, and analytes screened by
Tandem Mass Spectrometry were developed and their performance characteristics determined by the State of
Washington Public Health Laboratories/ Newborn Screening
Section. They have not been cleared or approved by the FDA
The laboratory is regulated under CLIA as qualified to perform high-complexity testing. These tests are used for screening purposes. They should not be regarded as investigational or for research
.