Newborn Metabolic Screen (PKU) Follow-up

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General Information

Lab Name
Newborn Metab. Scrn Follow_up
Lab Code
RNMSFG
Epic Name
Newborn Metab. Screen Follow-Up (Sendout)
Description

Test Information: Follow-up newborn screening test. Although not mandated, a routine second newborn screen is recommended for all infants between 7 and 14 days of age as a standard of medical practice to optimize disease detection for all infants. When collecting an early follow-up screen, allow for at least 72 hours betweent the collection of the first and second screens.

Third Newborn Screen: A third specimen collected at one month of age is recommended for all sick (requiring three or more weeks of hospitalization) and premature infants. Infants who have received interfering substances prior to collection of the 1st or 2nd newborn screen, may require a 3rd specimen.

If the screening status of an infant is unknown, such as for infants moving to Washington from out of the country, closed adoptions, or foster care cases, a specimen may be collected up to 6 months of age.

References
Synonyms
Adrenal Hyperplasia-congenital, CAH, PKU
Components
Code Name
RNSCAH Congenital Adrenal Hyperplasia (CAH)
RNSHBG Hemoglobinopathy
RBTNDS Biotinidase
RGALAC Galactosemia
RNSCH Congenital Hypothyroidism (CH)
RNSCF Cystic Fibrosis (CF)
RNSAAP Amino Acid Profile
RNSOAP Organic Acid Profile
RNSFAP Fatty Acid Profile
RNSCID Severe Combined Immunodeficiency (SCID)
RNXALD X linked Adrenoleukodystrophy (X ALD)
RGSDT2 Glycogen Storage Disorder Type II (Pompe)
RNMPSI Mucopolysaccharidosis Type I (MPS I)
RNSSMA Spinal Muscular Atrophy (SMA)
RNSNOT Newborn Metabolic Screen Additional Note
RNSCOM Newborn Metabolic Screen Comment
RNSLAB Newborn Metabolic Screen Performing Lab

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 in a drying rack or on a clean, dry, non-absorbent surface for a minimum of 3 hours, then replace the protective flap and store in the provided envelope.
  • If drying multiple specimens, keep the cards separated so that the blood spots do not touch.
  • Avoid storing wet or partially dried samples in plastic, as trapped moisture may degrade the blood and render the specimen unsuitable for testing.
  • If sending more than one sample, place each newborn screening card in an individual envelope, then enclose the envelopes in a larger envelope.

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.

    It is preferred that newborn screening cards not be stored in plastic. However, if the card has been allowed to air-dry for at least 3 hours, then storing in plastic is unlikely to affect sample quality, and samples should still be forwarded to WA DOH for testing.

    Quantity
    Requested: 5 circles on collection card filled completely with blood
    Minimum: 4 circles on collection card filled completely with blood

    Processing

    Receiving Instructions

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

    • Note: Specimens received in a plastic are still acceptable for testing as long as they have been sufficiently air-dried (for 3 hours) prior to storage.

    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).

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

    Misc Sendout

    Performance

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

    610 NE 150th St.
    Shoreline, WA 98155

    Billing & Coding

    LOINC
    18719-5
    Interfaced Order Code
    UOW6240