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WEST Syndrome Report

£49.00
WEST Syndrome Report

WEST Syndrome Report

£49.00
description

 This product is only meant for customers who already 
purchased a Sequencing Test

The WEST Syndrome Report is based on Whole Genome Sequencing Test. As such, it analyzes all Common and Rare Variants associated with WEST Syndrome instead of a limited set of genes, like old genetic target panels.

WEST Syndrome is a constellation of symptoms characterized by epileptic/infantile spasms, abnormal brain wave patterns called hypsarrhythmia and intellectual disability. 

Along with environmental factors, Genetics plays a key role in the regulation of WEST Syndrome.

 

  • 63 genes analyzed
  • 100% genomic regions covered
  • Intragenic and intergenic regions analyzed
  • All variants reported

 

List of genes:

ARX
STK9
IFNG
TSC1
TSC2
PAH
QDPR
PIGW
CDKL5
CHD2
CNPY3
CPLX1
CUX2
CYFIP2
DENND5A
DMXL2
DNM1
DOCK7
EEF1A2
FGF12
FRR
PARS2S1L
GABBR2
GABRA1
GABRA5
GABRB3
GABRB1
GABRG2
GLS
GNAO1
GOT2
GRIN2B
GRIN2D
GUF1
HCN1
HNRNPU
ITPA
KCNA2
KCNB1
KCNQ2
KCNT1
KCNT2
MDH2
NECAP1
NEUROD2
NTRK2
PACS2
PCDH19
PHACTR1
PIGB
PIGP
PIGQ
PLCB1
PNKP
PPP3CA
RNF13
SCN1B
SCN2A
SCN3A
SCN8A
SIK1
YWHAG
UGP2