Test directory: Newborn Screening Panel

Ordering Code5844
Test NameNewborn Screening Panel
Preferred SpecimenBlood Spots
Preferred ContainerFilter paper provided by Washington State Dept of Health
Optimum Volume5 completely filled spots (enough for entire screening panel)
Collection InstructionsNewborn 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 InstructionsAir 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 RequirementsOahu: Ambient
Airline: Ambient
Specimen StabilityAmbient: 5 days
Refrigerated: Not Stable
Frozen: Not Stable
Rejection CriteriaFrozen, Exposure to heat, Oversaturated or scratched filter paper circles, Filter paper circles incompletely filled or not saturated.
Avail. StatNO
Analytic Time7 Days
MethodologyTandem 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 November 21, 2024.
ComponentAgeMale NormMale Critical LowMale Critical HighFemale NormFemale Critical HighFemale Critical LowUnitsAdd'l info
Congen Adrenal Hyperplasia (17-OHP)ALLNORMAL FINDINGSNORMAL FINDINGS
Congenital Hypothyroidism (TSH)ALLNORMAL FINDINGSNORMAL FINDINGS
Cystic Fibrosis (IRT)ALLNORMAL FINDINGSNORMAL FINDINGS
HemoglobinopathyALLNORMAL FINDINGSNORMAL FINDINGS
BiotinidaseALLNORMAL FINDINGSNORMAL FINDINGS
GalactosemiaALLNORMAL FINDINGSNORMAL FINDINGS
Amino Acid ProfileALLNORMAL FINDINGSNORMAL FINDINGS
Organic Acid ProfileALLNORMAL FINDINGSNORMAL FINDINGS
Fatty Acid ProfileALLNORMAL FINDINGSNORMAL FINDINGS
Severe Combined ImmunodeficiencyALLNORMAL FINDINGSNORMAL FINDINGS
Glycogen Storage Disorder type IIALLNORMAL FINDINGSNORMAL FINDINGS
Mucopolysaccharidosis type IALLNORMAL FINDINGSNORMAL FINDINGS
X-linked adrenoleukodystrophyALLNORMAL FINDINGSNORMAL FINDINGS
Spinal Muscular AtrophyALLNORMAL FINDINGSNORMAL 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
.