EpiSign Complete: Tier 1 screening test with all episignatures 

EpiSign Variant: Targeted test of known variant for specific episignature

Genes

ADNP, ANKRD11, ARID1A, ARID1B, ATRX, BRWD3, CCNK, CDCA7, CDK13, CDKN1C, CHD2, CHD4, CHD7, CHD8, Chr1p36 deletion, Chr5q35-qter duplication (includes 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, HIST1H1E, ICR1, KANSL1, KAT6A, KAT6B, KCNQ1OT1, KDM2B, KDM5C, KDM6A, KMT2A, KMT2B, KMT2D, KMT5B, MEG3 promoter, NIPBL, NSD1, PHF6, PQBP1, POGZ, RAD21, SETD1B, SETD2, SETD5, SIN3A, SLC32A1, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SOX11, SNRPN promoter, SRCAP, TET3, UBE2A, UBE3A, UPD11 (both IC1 and IC2), UPD7, YY1, ZBTB24, ZC4H2, ZNF711, 14q32, 20q11-q13, 20q13.32, 6q24, 7p13-q32

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.