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Tests & Panels: New Tests
Tests are available using the following methodologies
DNA Sequencing
Deletion / Duplication: TaqMan Real-Time PCR
Deletion / Duplication: HDT Array
| Tests & Panels | Gene | MIM | Methods |
|---|---|---|---|
| Capillary malformation arteriovenous malformation (CMAVM) | RASA1 | 608354 |  |
| Treacher Collins syndrome (TCS) | TCOF1 | 154500 | |
| Aortic aneurysm, familial thoracic 3 / 4 / 5 / 6 (AAT3 / AAT4 / AAT5 / AAT6) | TGFBR2, MYH11, TGFBR1 & ACTA2 | 610380 / 132900 / 608967 / 611788 | |
| Parkes Weber syndrome (PKWS) | RASA1 | 608355 | |
| Multiple epiphyseal dysplasia (MED) | COMP | 132400 | |
| Short rib-polydactyly syndrome, type III (SRPS) | DYNC2H1 | 263510 | |
| Asphyxiating thoracic dystrophy 2 (ATD2) | IFT80 | 611263 | |
| Asphyxiating thoracic dystrophy 3 (ATD3) | DYNC2H1 | 613091 | |
| Spinal muscular atrophy, distal, congenital nonprogressive | TRPV4 | 600175 | |
| Hereditary motor and sensory neuropathy, type IIC, (HMSN2C) | TRPV4 | 606071 | |
| Scapuloperoneal spinal muscular atrophy (SPSMA) | TRPV4 | 181405 | |
| Brachyolmia type 2 | TRPV4 | 184095 | |
| Three M syndrome 1 (3M1) | CUL7 | 273750 | |
| Three M syndrome 2 (3M2) | OBSL1 | 612921 | |
Methodologies
DNA Sequencing
Deletion / Duplication: TaqMan Real-Time PCR
Deletion / Duplication: HDT Array
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