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Tests & Panels: New Tests
Tests are available using the following methodologies
DNA Sequencing
Deletion / Duplication: HDT Array
| Tests & Panels | Gene | MIM | Methods |
|---|---|---|---|
| Acromesomelic dysplasia, Maroteaux type (AMDM) | NPR2 | 602875 |  |
| Acromicric dysplasia (ACMICD) | FBN1 | 102370 | |
| Cranioectodermal dysplasia 2 (CED2) | WDR35 | 613610 | |
| Ehlers-Danlos syndrome, musculocontractural type | CHST14 | 601776 | |
| Geleophysic dysplasia 2 (GPHYSD2) | FBN1 | 614185 | |
| Short rib-polydactyly syndrome, type V (SRPS5) | WDR35 | 614091 | |
| Exostoses, multiple, type I & II (EXT1 / EXT2) | EXT1 & EXT2 | 133700 / 133701 | |
| Brittle cornea syndrome 2 (BCS2) | PRDM5 | 614170 | |
| Three M syndrome 3 (3M3) | CCDC8 | 614205 | |
| Caffey disease | COL1A1 | 114000 | |
| Osteogenesis imperfecta, types I, IIA, III & IV | COL1A1 & COL1A2 | 166200, 166210, 259420 & 166220 | |
Methodologies
DNA Sequencing
Deletion / Duplication: HDT Array
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Our list of diagnostics continues to expand to meet your needs. Please let us know if you require an additional test by completing our online Suggest a Test form.