Newborn Screening
Abbrev Code: | NBSCR | ||
Order Code: | LAB4059 | Order Name: | NB Metabolic Screen |
Synonyms: | Congenital Adrenal Hyperplasia; Galactosemia, Screen; Hemoglobinopathy, Screen; Hypothyroidism, Screen; Inborn Errors of Metabolism Screen; Newborn Metabolic Screening; Phenylketonuria, Screen; PKU, Screen; Amino Acidemias; Acylcarnitine Screen; Biotinidase Screen; X-Linked Adrenoleukodystrophy Screen; Spinal Muscular Atrophy Screen | ||
Methodology: | Isoelectric focusing (hemoglobinopathies), fluoroimmunoassay (TSH/14-OHP), fluorescence (glactosemia), MS/MS (PKU acidemias, organic acidemias, fatty acid oxidation disorders), 2-step IRT-DNA (cystic fibrosis), colorimetric (biotinidase) | ||
CPT Codes: | S3620 x1 | ||
Test Includes: | Test screens for congenital hypothyroidism, galactosemia, cystic fibrosis, hemoglobinopathies and congenital adrenal hyperplasia; selected amino acid metabolism disorders including PKU, organic acidemias, fatty acid oxidation disorders, Biotinidase deficiency, SCID/Primary T-cell lymphopenia; lysosomal disease profile, Spinal muscular atrophy. | ||
Turnaround Time: | Specimens are sent to reference laboratory Mon-Sat; results are reported within 7-10 days. | ||
Special Instructions: | Complete specimen form including requested information on baby and mother, attending physician name and phone number, and date of specimen collection. Store specimen forms in a cool, dry area; protect the collection surface. Return all ruined/unusable forms to the laboratory for return and credit from MDH. An MDH genetic counselor is available for consultation regarding screening results at 651-201-3548. | ||
Associated Links: |
Collection Instructions
Specimen: | Blood |
Optimal Volume: | 0.5 mL to saturate five 13 mm circles on filter paper (MDH request/specimen form) |
Minimum\Peds Volume: | 0.5 mL to saturate five 13 mm circles |
Container: | Filter paper |
Collection Instructions: | Apply blood from heelstick to (apply to one side only) filter paper until each circle is filled completely when viewed from the other side. Avoid repeated applications; allow circles to fill by natural flow. Do not use pipet or capillary device. Allow to air dry for three hours and transport to laboratory in an unsealed specimen transport bag. Do not expose to heat or moisture. |
Patient Preparation: |
Recommended protocol:
Collect prior to 24 hours:
Collect additional sample if initial collection performed prior to 24 hours:
Collect additional sample:
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Processing and Shipping
Specimen Processing: | Store at room temperature. |
Shipping Instructions: | Ship at room temperature. |
Test Performed at or Referral Lab | Lab Sendouts (Minnesota Department of Health) |
Interpretive
Reference Range: |
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Use: | Minnesota newborns are tested soon after birth for more than 50 hidden, rare disorders. If left untreated, these disorders can lead to illness, physical disability, developmental delay or death. By identifying these disorders early, however, interventions, medication or changes in diet can help prevent most health problems caused by the disorders on the newborn screening panel. For additional information about the Minnesota Department of Health Newborn Screening Program, go to http://www.health.state.mn.us/divs/phl/newborn/index.html. See Associated Links. |
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