Skeletal and connective tissue disorders panel
21 days
Next Generation Sequencing
Gene list (24): ATR, BCS1L, CCDC8, CDC45, CDC6, CDT1, CENPJ, CEP152, CEP63, CUL7, LARP7, NOTCH2, OBSL1, ORC1, ORC4, ORC6, PCNT, POC1A, RBBP8, RNU4ATAC, RTTN, SRCAP, TRIM37, XRCC4
Accredited NRL Laboratory
Once a week
Genetic diagnosis of 3M syndrome; guide clinical care and familial counselling.
Peripheral Blood
5-7 mL whole blood OR DNA ≥ 100 µL
Lavender-top (EDTA) tube
No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.
This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |
Skeletal and connective tissue disorders panel
21 days
Next Generation Sequencing
Gene list (24): ATR, BCS1L, CCDC8, CDC45, CDC6, CDT1, CENPJ, CEP152, CEP63, CUL7, LARP7, NOTCH2, OBSL1, ORC1, ORC4, ORC6, PCNT, POC1A, RBBP8, RNU4ATAC, RTTN, SRCAP, TRIM37, XRCC4
Accredited NRL Laboratory
Once a week
Genetic diagnosis of 3M syndrome; guide clinical care and familial counselling.
Peripheral Blood
5-7 mL whole blood OR DNA ≥ 100 µL
Lavender-top (EDTA) tube
No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.
This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |