Newborn Metabolic Screen (PKU) (Initial Request)

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General Information

Lab Name
Newborn Metabolic Screen (PKU)
Lab Code
RNMSG
Epic Name
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
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 gauze 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).

      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.

      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

      CPT Codes
      81479x2, 82136, 82261, 82657, 83020, 83498, 83520, 83789x2, 83918, 84443
      LOINC
      57794-0
      Interfaced Order Code
      UOW6222