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Sanger Sequencing & Del / Dup
Tests are available using the following methodologies
DNA Sequencing
Deletion / Duplication: HDT Array
| Tests & Panels | Gene | MIM | Methods |
|---|---|---|---|
| Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) | FLVCR2 | 225790 |  |
| Thrombocytopenia and absent radius syndrome (TAR) | RBM8A | 274000 | |
| Osteogenesis imperfecta, type V | IFITM5 | 610967 | |
| Digital arthropathy-brachydactyly, familial (FDAB) | TRPV4 | 606835 | |
| Metaphyseal anadysplasia 1 (MANDP1) and Metaphyseal anadysplasia 2 (MANDP2) | MMP9 & MMP13 | 602111 & 613073 | |
| Metaphyseal anadysplasia 2 (MANDP2) | MMP9 | 613073 | |
| Parastremmatic dwarfism | TRPV4 | 168400 | |
| Shprintzen-Goldberg craniosynostosis syndrome (SGS) | SKI | 182212 | |
| Osteogenesis imperfecta, types VI, VII, VIII, IX, X, XI, XII & XIII | SERPINF1, CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SP7 & BMP1 | 613982, 610682, 610915, 259440, 613848, 610968, 613849 & 614856 | |
| Osteogenesis imperfecta, type XIII | BMP1 | 614856 | |
Next Generation Sequencing Panels
| Tests & Panels | Genes |
|---|---|
| Aneurysm / Vascular Panel | ACTA2 / COL3A1 / FBN1 / MYH11 / SLC2A10 / SMAD3 / TGFB2 / TGFBR1 / TGFBR2 |
| Fibrillinopathy panel | CBS, FBN1, & FBN2 |
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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.