Cornelia de Lange syndrome Panel
21 days
Next Generation Sequencing
Genelist (45): ADNP, AFF4, ANKRD11, ARHGAP31, ARID1A, ARID1B, ASXL1, ASXL3, BRD4, CHD7, CREBBP, CTCF, DLL4, DOCK6, DPF2, EHMT1, EOGT, EP300, ESCO2, ESPL1, HDAC8, KDM1A, KMT2A, MED12, MED13L, NAA50, NIPBL, NOTCH1, PDGFRB, PACS1, PHF6, PHIP, RAD21, RBPJ, SETD5, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SOX11, SRCAP, STAG1, STAG2, TAF1, TAF6, WDR26, ZMYND11
Accredited NRL Laboratory
Once a week
Diagnose Cornelia de Lange syndrome genetically; clinical management and prognosis.
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 |