Newborn Metabolic Screen (PKU) (Initial Request)

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General Information

Lab Name
Newborn Metabolic Screen (PKU)
Lab Code
RNMSG
Epic Ordering
Newborn Metabolic Screen (PKU) (Sendout)
Description

Test Information: Newborn screening enables early identification of selected disorders that, without detection and treatment, can lead to permanent mental and physical damage or death in affected children (see link below for list of disorders screened for in WA State). State law requires that a specimen be collected for each newborn prior to 48 hours of age. It is the recommendation of the Department of Health that the first newborn screening specimen be collected after 18 hours of age whenever possible, as specimens collected earlier than 18 hours yield higher rates of false positive results. Under certain circumstances, a specimen may be collected prior to 18 hours of age (for infants who are premature, sick, or will receive interfering substances).

References
Synonyms
Adrenal Hyperplasia-Congenital, CAH, PKU
Components

Interpretation

Reference Range
See individual components
Interferences and Limitations

Further testing may benefit a child presenting with pertinent signs and symptoms regardless of normal newborn screening results. Normal NBS results should not prevent a diagnostic work-up in cases where a particular disorder is highly suspected.

References

Ordering & Collection

Specimen Type
Blood
Collection

Materials: Newborn Screening Collection Cards are available through Materials Management. Specify Stock Item: #61118.

Collection:

  • Cleanse the site with a sterile alcohol pad and allow alcohol to dry completely.
  • Perform capillary puncture using a sterile lancet. Wipe the first drop of blood with a sterile guaze pad.
  • Fold back the protective flap on the card to expose filter paper. Do not touch or handle the filter paper before or after applying blood.
  • Lightly touch filter paper to the large blood drop, allowing blood to soak through the filter paper and saturate the circle completely with a single application. Apply blood to one side of the paper only.
  • Very gentle, intermittent pressure may be applied to the area surrounding the puncture site. Do not squeeze the puncture site.
  • Continue with collection until all 5 circles are filled with blood.
  • Allow collection card to dry completely on a clean, dry, non-absorbent surface for a minimum of 4 hours, then replace the protective flap and store in the provided envelope.
    • Do not store samples in plastic.

Unacceptable Samples: Incomplete blood saturation of filter paper, blood applied to both sides of filter paper, oversaturation/layering of blood on filter paper, capillary tube used to apply blood to filter paper, specimens exposed to high temperatures, contamination or dilution of sample, insufficient quantity of sample, samples stored in sealed plastic.

Handling Instructions
Quantity
requested: 5 circles on collection card filled completely with blood
minimum: 4 circles on collection card filled completely with blood

Processing

Processing

SPS: Orders must be received in Sunquest prior to forwarding the sample to Sendouts. Store at ambient temperature while awaiting transport.

Sendouts:

  • Review collection card for accuracy and fill in any missing information.
  • Write the accession number in the "Miscellaneous Information" box and affix a small CID label to the card in an area that doesn't obstruct any clinical information.
  • Ensuring that the flap is closed, make a photocopy of the front of the card for subsequent scanning into OnBase.
  • Package card in provided envelope (one specimen per envelope). Multiple envelopes may be included in the same larger envelope/package.
  • Send to the State Metabolic Screening Lab within 24 hours of obtaining sample (or as soon as possible).
    • UW-MT: Send Mon-Fri via UW Courier. Samples received after courier pickup on Friday may be sent Monday.
    • HMC: Forward samples to UW-MT for courier pickup.
  • Specimens must be received by the state newborn screening lab within 72 hours of collection (excluding Sundays and holidays).

Refusal of Testing: In the instance that parents refuse testing, a parental or guardian signature is required on the reverse side of the completed newborn screening card. As with a blood specimen, the refusal signature must be obtained within 48 hours of birth, and the card must be received by the Newborn Screening Laboratory within 72 hours of birth.

Specimen Retention: The Newborn Screening Program retains all specimen cards for 21 years after the birth of the child.

Performance

LIS Dept Code
Sendouts (SO)
Performing Location(s)
Sendout Washington State Department of Health, Metabolic Screening Laboratory
206-418-5410

610 NE 150th St.
Shoreline, WA 98155

Frequency
Performed: Monday through Saturday. Samples received by 10:00 am will be set up for testing the next day. TAT: 2 weeks.
Available STAT?
No

Billing & Coding

CPT codes
81479x2, 82136, 82261, 82657, 83020, 83498, 83520, 83789x2, 83918, 84443
LOINC
57794-0