Newborn Screening
Abbrev Code: | NBSCR | ||
Order Code: | LAB4059 | Order Name: | NB Metabolic Screen |
Synonyms: | cCMV; Congential Cytomegalovirus; 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 six 13 mm circles on filter paper (MDH request/specimen form) |
Minimum\Peds Volume: | 0.5 mL to saturate six 13 mm circles |
Container: | Filter paper |
Collection Instructions: | Avoid touching the area within the circles on the filter paper section before, during, and after collection of the specimen, since oils and other materials from the hands might affect or contaminate the card or specimen. Do not allow water, feeding formulas, antiseptic solutions, glove powder, hand lotion, or other materials to come into contact with the specimen card before or after use.
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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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