Targeted test of known variant for specific episignature
Genes
ADNP, ARID1A, ARID1B, ATRX, BRWD3, CDCA7, CHD2, CHD7, CHD8, Chr17q23.1-q24.2, duplication involving NSD1, Chr21 trisomy, Chr4p16.13 deletion, Chr7q11.23 deletion, Chr7q11.23 duplication, Chr22q13.3 deletion, Chr22q11.2 deletion, CREBBP, DIP2B promoter, DNMT1, DNMT3A, DNMT3B, EED, EHMT1, EP300, EZH2, FAM50A, FMR1 promoter, HELLS, HIST1H1E, KANSL1, KAT6A, KAT6B, KAT6B, KDM2B, KDM4B, KDM5C, KDM6A, KMT2A, KMT2B, KMT2D, KMT5B, MEG3 promoter, NIPBL, NSD1, PHF6, PQBP1, RAD21, SETD1B, SETD2, SETD5, SMARCA2, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMC1A, SMC3, SMS, SOX11, SNRPN promoter, SRCAP, TET3, UBE2A, UBE3A, UPD11 (both ICF1 and ICF2), UPD7, YARS2, YY1, ZBTB24, ZNF711
Disorders
Disorders list
Sample Requirements
Peripheral blood collected in EDTA (mauve top) vacutainer. Extracted DNA can also be submitted. Please specify concentration and method of extraction, source must be originally from peripheral blood
Shipping Instructions
Samples should be shipped at room temperature overnight by courier and according to current standards for Transportation of Dangerous Goods, and in IATA Packing instruction 650 summarized as:
- a water tight primary receptacle
- a water tight secondary receptacle with sufficient absorbent material to absorb the fluid in the primary receptacle
- an outer package of adequate strength for its intended use.