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Amino Acid (AA) Conditions | | Updated | 10/12/2009 | | Other Names | Homocystinuria (HCU, HCY, Cystathionine beta-synthase deficiency);
Hypermethioninemia;
Hyperphenylalaninemia;
Phenylketonuria (PKU);
Tyrosinemia (TYR) | | How to Order | Submit Newborn Screening Dried Blood Spot Specimen Collection Card | | Availability | Birthing centers, medical practitioners and laboratories responsible for newborn screening specimen collection. | | Methodology | Tandem Mass Spectrometry (MS/MS) | | Performed | Daily, on regular business days, for all specimens received. | |
Time to Reporting
| 2 to 10 working days after receipt of specimen collection card. | |
CPT Code
| 82139 - Amino acids; 6 or more amino acids, quantitative, each specimen |
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Specimen Collection Details
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Collection
| Capillary blood obtained from heel lance and applied to newborn screening filter paper circles on the specimen collection card. Obtain specimen prior to transfusion. Demographic fields should be filled in completely. First screening specimen should be collected at 24-48 hours of age or before discharge; second screening specimen should be collected at 10-15 days of age. | |
Optimal Volume
| Four evenly saturated circles. | |
Minimum Volume
| Two evenly saturated circles. | |
Handling
| Air-dry specimens at room temperature for 2-4 hours in a horizontal position. Insert dried specimens into a paper, cardboard or Tyvek envelope (do not use plastic) for shipping. Specimens collected on weekends or holidays should be stored at room temperature and sent by overnight mail or courier at the earliest opportunity. | |
Transport
| All specimens should be sent first class or overnight mail or by courier within 24 hours of collection. | |
Rejection Criteria
| Improperly collected specimens, including: uneven saturation, insufficient blood volume, contamination, specimen received more than 14 days after collection or infant is older than 6 months of age. | |
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