TESTS FILTERED BY CATEGORY TYPE
Genetics
| TEST | ALTERNATE NAME |
| 5-alpha reductase | SRD5A2, steroid-5-alpha-reductase |
| 5-oxoprolinuria | GSS, glutathione synthetase |
| Adenosine monophosphate deaminase 1 | AMPD1 |
| Alanine glyoxalate amino transferase | AGXT |
| Alpha 1 Antitrypsin deficiency | SERPINA1 / AATD / A1AT |
| Androgen receptor | AR, androgen insensitivity syndrome |
| Apolipoprotein E | ApoE |
| ARX dup 24 | XMR |
| ßENaC R563Q mutation | Liddle syndrome; Epithelial sodium channel |
| Bardet-Biedl Syndrome | BBS10 |
| BARTH syndrome | TAZ / Tafazzin |
| Biotinidase | BTD |
| C10ORF2 | Twinkle / Mitochondrial DNA depletion |
| Carnitine palmitoyltransferase II | CPT2 |
| Cerebrotendinous Xanthomatosis | CYP27A1, CTX |
| Next | Last |
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