Find a Test 
New Tests
New Tests
Tests & Panels: New Tests
| Tests & Panels | Gene | MIM |
|---|---|---|
| Marfan syndrome, type I (MFS1)
NEW TaqMan quantitative real-time PCR assay for detection of deletions/duplications. |
FBN1 | 154700 |
| Periventricular heterotopia, X-linked dominant (PVNH1) | FLNA | 300049 |
| Otopalatodigital syndrome, type I (OPD1) | FLNA | 311300 |
| Otopalatodigital syndrome, type II (OPD2) | FLNA | 304120 |
| Frontometaphyseal dysplasia (FMD) | FLNA | 305620 |
| Melnick-Needles syndrome (MNS) | FLNA | 309350 |
| Cardiac valvular dystrophy, X-linked (CVD1) | FLNA | 314400 |
| Periventricular heterotopia, Ehlers-Danlos variant (PVNH4) | FLNA | 300537 |
| Campomelic dysplasia | SOX9 | 114290 |
| Omodysplasia 1 (OMOD1) | GPC6 | 258315 |
| Rickets, hypophosphatemic, autosomal recessive (ARHP) | DMP1 | 241520 |
| Camurati-Engelmann disease | TGFB1 | 131300 |
| Schwartz-Jampel syndrome, type 1 | HSPG2 | 255800 |
| Dyssegmental dysplasia, Silverman-Handmaker type | HSPG2 | 224410 |
Suggest a Test
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.