Table 3.
Positive screens for MPS I during Georgia pilot study. CLIR interpretation possibilities are uninformative (below 1st percentile), possible (1st–5th percentiles), likely (5th–20th percentiles) and very likely (>20th percentile). Variant interpretations are those received from the clinical laboratory performing testing (B = benign; U = variant of uncertain significance).
| Case ID | Birth Weight (g) | Sex | Race | Age at Collection (hours) | DBS IDUA | CLIR Score (Interpretation) | IDUA Confirmation | Glycosaminoglycans | Allele 1 | Allele 2 | CNV Analysis | Outcome |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M1 | 3412 | M | Black | 32 | 0.194 | 346 (Likely) | 0.6 nmol/h/mL (≥1.0) * | Normal | c.923T>C p.Leu308Pro (U) | None | Negative | Unresolved (Lost to Genetics Follow-up) |
| M2 | 2994 | F | Black | 24 | 0.355 | 177 (Likely) | 4.2 nmol/h/mg protein (3.57– 21.40) | Essentially Normal (Repeat Normal) | Not performed | Unaffected | ||
| M3 | 3470 | M | Black | 24 | 0.238 | 337 (Likely) | 7.4 pmol/punch/h (>8.0) | Normal | C.1238_1264del (U) | None | Negative | Unresolved (Lost to Genetics Follow-up) |
| M4 ** | 2320 | M | Black | 49 | 0.186 | 266 (Likely) | Family refused follow-up | |||||
| M5 ** | 2360 | M | Black | 50 | 0.226 | 228 (Likely) | Family refused follow-up | |||||
| M6 | 3820 | F | Black | 25 | 0.597 | 112 (Likely) | 5.7 nmol/h/mg protein (3.57– 21.40) | Normal | Not performed | Unaffected | ||
| M7 | 3030 | M | Black | 40 | 0.222 | 335 (Likely) | 5.1 nmol/h/mg protein (3.57–21.40) | Normal | Not performed | Unaffected | ||
| M8 | 2817 | F | Black | 25 | 0.302 | 138 (Likely) | 1.6 nmol/h/mg protein (12.0–65) * | Normal | None | None | Negative | Unresolved (Lost to Genetics Follow-up) |
| M9 | 3165 | F | White | 25 | 0.242 | 266 (Likely) | 0.3 nmol/h/mg protein (3.57–21.40) * | Family refused further follow-up | ||||
| M10 | 2906 | F | Black | 25 | 0.403 | 212 (Likely) | 0.3 nmol/h/mL (≥1.0) * | Normal | c.235G>A p.Ala79Thr (B) | c.235G>A p.Ala79Thr (B) | Not performed | Pseudodeficiency |
| M11 | 3375 | M | Black | 50 | 0.323 | 200 (Likely) | 0.2 nmol/h/mg protein (3.57–21.40) * | Normal | c.235G>A p.Ala79Thr (B) | c.235G>A p.Ala79Thr (B) | Not performed | Pseudodeficiency |
*
Enzyme results interpreted by testing laboratory as abnormal; laboratory specific reference ranges are shown in parentheses.
**
Cases 4 and 5 are twin siblings.