Test Catalog

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Category

Category

Epilepsy

Neurodevelopmental Disorders

Disease

Disease

Atypical Rett Syndrome

Early Infantile Epileptic Encephalopathy

Epilepsy

Gene

Gene

ABAT

ADGRV1

ADSL

ALDH7A1

ALG13

ALG9

ALPL

AMT

ANKRD11

ARFGEF2

ARHGEF9

ARX

ASAH1

ASPM

ATP13A2

ATP1A2

ATP1A3

ATP2A2

ATP6AP2

ATP6V0A2

ATRX

BCKDK

BRAT1

CACNA1A

CACNA1H

CACNA2D1

CACNA2D2

CACNB4

CASK

CASR

CDKL5

CENPJ

CHD2

CHRNA2

CHRNA4

CHRNA7

CHRNB2

CLN3

CLN5

CLN6

CLN8

CNTNAP2

COL4A1

CPA6

CPT2

CRH

CSTB

CTSD

CTSF

CUL4B

CYP27A1

DCX

DEAF1

DEPDC5

DNAJC5

DNM1

DOCK7

DPYD

DYNC1H1

DYRK1A

EEF1A2

EFHC1

EMX2

EPM2A

FGD1

FGFR3

FKRP

FKTN

FLNA

FOLR1

FOXG1

GABRA1

GABRB2

GABRB3

GABRD

GABRG2

GAMT

GATM

GFAP

GLDC

GNAO1

GOSR2

GPC3

GPR56

GRIA3

GRIN1

GRIN2A

GRIN2B

GRN

HCN1

HCN4

HNRNPU

HPRT1

HSD17B10

IQSEC2

KANSL1

KCNA1

KCNA2

KCNB1

KCNC1

KCNH2

KCNJ10

KCNJ11

KCNMA1

KCNQ2

KCNQ3

KCNT1

KCTD7

KDM5C

KIAA1279

KIAA2022

KMT2D

L2HGDH

LAMA2

LARGE1

LBR

LGI1

LIAS

LMNB2

MAGI2

MBD5

MCPH1

MECP2

MEF2C

MFSD8

NDE1

NDUFA1

NHLRC1

NIPBL

NOTCH3

NR2F1

NRXN1

OFD1

OPHN1

PAFAH1B1

PAK3

PANK2

PAX6

PCDH19

PEX7

PHF6

PHGDH

PIGA

PIGN

PIGO

PIGV

PLA2G6

PLCB1

PLP1

PNKP

PNPO

POLG

POMGNT1

POMT1

POMT2

PPT1

PQBP1

PRICKLE1

PRICKLE2

PRIMA1

PRRT2

PURA

QARS

RAB39B

RAB3GAP1

RAI1

RBFOX1

RELN

RNASEH2A

RNASEH2B

RNASEH2C

ROGDI

SAMHD1

SCARB2

SCN1A

SCN1B

SCN2A

SCN3A

SCN5A

SCN8A

SCN9A

SERPINI1

SETBP1

SETD2

SHH

SIK1

SIX3

SLC13A5

SLC19A3

SLC25A19

SLC25A22

SLC2A1

SLC35A2

SLC4A10

SLC6A1

SLC6A8

SLC9A6

SMC1A

SMC3

SMS

SNAP25

SPATA5

SPTAN1

SRPX2

ST3GAL3

ST3GAL5

STIL

STX1B

STXBP1

SUCLA2

SYN1

SYNGAP1

SYNJ1

SYP

SZT2

TBC1D24

TBL1XR1

TBX1

TCF4

TPP1

TREX1

TSC1

TSC2

TSEN54

TUBA1A

TUBA8

TUBB2B

UBE3A

VPS13A

VPS13B

WDR45

WDR62

WWOX

ZEB2

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	Test Name	Test Code	Type	Category	Disease