Tests by Gene

Ambry Genetics has cataloged all of our tests and organized them below by gene. The comprehensive listing of tests by gene is organized in alphabetical order.

Gene Tests
ABCA3 Surfactant Dysfunction Testing
ABCC9 CardioNext,
CMNext,
DCMNext,
CustomNext-Cardio
ABCD1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
X-Linked Adrenoleukodystrophy
ACSL4 Neurodevelopment-Expanded,
Intellectual Disability (IDNext)
ACTA2 TAADNEXT,
CustomNext-TAAD
ACTC1 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
LVNCNext,
CustomNext-Cardio
ACTN2 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
ACVRL1 Hereditary Hemorrhagic Telangiectasia (HHT) Testing
ADNP Neurodevelopment-Expanded,
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext)
AKAP9 CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
ALDH7A1 Comprehensive Epilepsy Testing (EpilepsyNext),
Neonatal Seizures (EpiFirst-Neonate),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
ALG13 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
ANK2 CardioNext,
CPVTNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
ANKRD1 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
ANKRD11 Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
AP1S2 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
AP4B1 Intellectual Disability (IDNext)
AP4B1 Neurodevelopment-Expanded
APC Adenomatous Polyposis,
CancerNext,
ColoNext,
PancNext,
Familial Adenomatous Polyposis,
CancerNext-Expanded,
CustomNext-Cancer
APOB FHNEXT
ARHGEF9 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
ARID1B Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
ARMC4 Primary Ciliary Dyskinesia Testing
ARX Infantile Spasms (EpiFirst-IS) ,
Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
ASPA Canavan Disease Testing
ATM BreastNext,
CancerNext,
OvaNext,
PancNext,
CancerNext-Expanded,
ATAXIA-TELANGIECTASIA
ATM ATAXIA-TELANGIECTASIA ,
BRCAplus-EXPANDED,
CustomNext-Cancer,
ProstateNext
ATP13A2 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
ATP1A2 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded,
Familial Hemiplegic Migraine,
CUSTOMNEXT-EPILEPSY
ATP7A Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
Menkes and related syndromes
ATP7B Wilson Disease
ATRX Intellectual Disability (IDNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
BAG3 CardioNext,
CMNext,
DCMNext,
CustomNext-Cardio
BAP1 RenalNext,
CancerNext-Expanded,
CustomNext-Cancer
BARD1 CancerNext,
BreastNext,
OvaNext,
CancerNext-Expanded,
CustomNext-Cancer
BMPR1A Juvenile Polyposis Syndrome,
CancerNext,
ColoNext,
CancerNext-Expanded,
CustomNext-Cancer
BRCA1 BRCAplus ,
BRCA1 AND BRCA2 ,
CancerNext,
BreastNext,
OvaNext,
PancNext,
GYNplus,
CancerNext-Expanded,
BRCAplus-EXPANDED,
CustomNext-Cancer,
ProstateNext
BRCA2 BRCAplus ,
BRCA1 AND BRCA2 ,
CancerNext,
BreastNext,
OvaNext,
PancNext,
GYNplus,
CancerNext-Expanded,
BRCAplus-EXPANDED,
CustomNext-Cancer,
ProstateNext
BRIP1 CancerNext,
BreastNext,
OvaNext,
CancerNext-Expanded,
GYNplus,
CustomNext-Cancer
BRWD3 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
CA8 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
CACNA1A Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded
CACNA1A Intellectual Disability (IDNext),
Familial Hemiplegic Migraine,
CUSTOMNEXT-EPILEPSY
CACNA1C CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
CACNA1C Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
CACNA2D1 CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
CACNB2 CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
CALM1 CardioNext,
CPVTNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
CASK Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
CASQ2 CardioNext,
CPVTNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
CAV3 CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
CBS TAADNEXT,
CustomNext-TAAD
CC2D1A Intellectual Disability (IDNext),
Neurodevelopment-Expanded
CCDC103 Primary Ciliary Dyskinesia Testing
CCDC114 Primary Ciliary Dyskinesia Testing
CCDC39 Primary Ciliary Dyskinesia Testing
CCDC40 Primary Ciliary Dyskinesia Testing
CDH1 Hereditary Diffuse Gastric Cancer,
BreastNext,
CancerNext,
ColoNext,
OvaNext,
BRCAplus ,
CancerNext-Expanded,
BRCAplus-EXPANDED,
CustomNext-Cancer
CDK4 CancerNext,
CancerNext-Expanded,
CDKN2A and CDK4 Testing,
CustomNext-Cancer
CDKL5 Infantile Spasms (EpiFirst-IS) ,
Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
CDKN2A CancerNext,
CancerNext-Expanded,
PancNext,
CDKN2A and CDK4 Testing,
CustomNext-Cancer
CFTR Cystic Fibrosis Testing,
Pancreatitis Testing,
Primary Ciliary Dyskinesia Testing
CHD2 Comprehensive Epilepsy Testing (EpilepsyNext),
Febrile Seizures (EpiFirst-Fever),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
CHD7 CHARGE Syndrome testing
CHD7 Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
CHD8 Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
CHEK2 CHEK2-Related Cancer,
BreastNext,
CancerNext,
ColoNext,
OvaNext,
CancerNext-Expanded,
BRCAplus-EXPANDED,
CustomNext-Cancer,
ProstateNext
CHRNA2 Comprehensive Epilepsy Testing (EpilepsyNext),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
CHRNA4 Comprehensive Epilepsy Testing (EpilepsyNext),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
CHRNB2 Comprehensive Epilepsy Testing (EpilepsyNext),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
CLN3 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
CLN5 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
CLN6 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
CLN8 Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
CUSTOMNEXT-EPILEPSY
CLN8 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded
CNTNAP2 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
COL3A1 TAADNEXT,
CustomNext-TAAD
COL5A1 TAADNEXT,
CustomNext-TAAD
COL5A2 TAADNEXT,
CustomNext-TAAD
CREBBP Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
RUBINSTEIN-TAYBI SYNDROME
CRH Comprehensive Epilepsy Testing (EpilepsyNext),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
CRYAB CardioNext,
CMNext,
CustomNext-Cardio
CSRP3 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
CSTB Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
CTCF Intellectual Disability (IDNext),
Neurodevelopment-Expanded
CTRC Pancreatitis Testing
CTSD Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
CTSF Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
CUL4B Intellectual Disability (IDNext),
Neurodevelopment-Expanded
DCX Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
DDX3X Intellectual Disability (IDNext),
Neurodevelopment-Expanded
DEPDC5 Comprehensive Epilepsy Testing (EpilepsyNext),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
DES CardioNext,
CMNext,
DCMNext,
CustomNext-Cardio
DHCR7 Smith-Lemli-Opitz Syndrome (SLOS),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
DICER1 Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome,
CustomNext-Cancer
DKC1 Dyskeratosis Congenita
DLG3 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
DMD CardioNext,
CMNext,
DCMNext,
CustomNext-Cardio
DNAAF1 Primary Ciliary Dyskinesia Testing
DNAAF2 Primary Ciliary Dyskinesia Testing
DNAAF3 Primary Ciliary Dyskinesia Testing
DNAAF5 Primary Ciliary Dyskinesia Testing
DNAH11 Primary Ciliary Dyskinesia Testing
DNAH5 Primary Ciliary Dyskinesia Testing
DNAI1 Primary Ciliary Dyskinesia Testing
DNAI2 Primary Ciliary Dyskinesia Testing
DNAJC5 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
DNM1 Comprehensive Epilepsy Testing (EpilepsyNext),
Infantile Spasms (EpiFirst-IS) ,
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
DSC2 CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
DSG2 CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
DSP CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
DYNC1H1 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded
DYNC1H1 Intellectual Disability (IDNext),
CUSTOMNEXT-EPILEPSY
DYRK1A Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
EEF1A2 Comprehensive Epilepsy Testing (EpilepsyNext),
Infantile Spasms (EpiFirst-IS) ,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
EHMT1 Intellectual Disability (IDNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded,
Kleefstra Syndrome
EMD CardioNext,
CMNext,
CustomNext-Cardio
ENG Hereditary Hemorrhagic Telangiectasia (HHT) Testing
EPCAM CancerNext,
ColoNext,
OvaNext,
PancNext,
RenalNext,
Lynch Syndrome,
GYNplus,
CancerNext-Expanded,
CustomNext-Cancer,
ProstateNext
EPM2A Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
EYA4 CardioNext,
CMNext,
DCMNext,
CustomNext-Cardio
FBN1 TAADNEXT,
CustomNext-TAAD
FBN2 TAADNEXT,
CustomNext-TAAD
FGD1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
FH RenalNext,
CancerNext-Expanded,
Hereditary Leiomyomatosis and Renal Cell Cancer,
PGLNext,
CustomNext-Cancer
FKTN CardioNext,
CMNext,
DCMNext,
CustomNext-Cardio
FLCN RenalNext,
CancerNext-Expanded,
Birt-Hogg-Dubé Syndrome ,
CustomNext-Cancer
FLNA TAADNEXT,
Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CustomNext-TAAD,
CUSTOMNEXT-EPILEPSY
FMR1 Fragile X-Associated Disorders ,
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
FOLR1 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
FOXG1 Infantile Spasms (EpiFirst-IS) ,
Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
FOXP1 Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
FOXP2 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
FTSJ1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
FXN CardioNext,
CMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
GABRA1 Comprehensive Epilepsy Testing (EpilepsyNext),
Febrile Seizures (EpiFirst-Fever),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
GABRB3 Comprehensive Epilepsy Testing (EpilepsyNext),
Febrile Seizures (EpiFirst-Fever),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
GABRG2 Comprehensive Epilepsy Testing (EpilepsyNext),
Febrile Seizures (EpiFirst-Fever),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
GALNT12 CustomNext-Cancer
GAMT Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
GATA4 CardioNext,
CustomNext-Cardio
GATAD1 CardioNext,
CMNext,
CustomNext-Cardio
GATM Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
GBA Gaucher Disease
GCK Maturity-Onset Diabetes of the Young (MODY) Testing
GDF2 Hereditary Hemorrhagic Telangiectasia (HHT) Testing
GDI1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
GLA CardioNext,
CMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
GNAO1 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
GOSR2 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
GPC3 Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
Simpson-Golabi-Behmel Syndrome
GPD1L CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
GREM1 ColoNext,
CancerNext-Expanded,
CancerNext,
GREM1 Duplication Analysis,
CustomNext-Cancer
GRIA3 Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
GRIN1 Comprehensive Epilepsy Testing (EpilepsyNext),
Infantile Spasms (EpiFirst-IS) ,
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
GRIN2A Comprehensive Epilepsy Testing (EpilepsyNext),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Infantile Spasms (EpiFirst-IS) ,
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
GRIN2B Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
GRN Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
HBB HBB-Related Disorders
HCN1 Comprehensive Epilepsy Testing (EpilepsyNext),
Febrile Seizures (EpiFirst-Fever),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
HCN4 CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
HDAC8 Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
Cornelia de lange syndrome
HEXA Tay-Sachs Disease
HNF1A Maturity-Onset Diabetes of the Young (MODY) Testing
HNF1B Maturity-Onset Diabetes of the Young (MODY) Testing
HNF4A Maturity-Onset Diabetes of the Young (MODY) Testing
HNRNPU Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
HOXA1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
HOXB13 CustomNext-Cancer,
ProstateNext
HPRT1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
Lesch-Nyhan syndrome
HUWE1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
IDS Hunter Syndrome,
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
IQSEC2 Comprehensive Epilepsy Testing (EpilepsyNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
IQSEC2 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
CUSTOMNEXT-EPILEPSY
JAG1 Alagille Syndrome Testing,
CardioNext,
CustomNext-Cardio
JPH2 CardioNext,
CMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
JUP CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
KAT6A Intellectual Disability (IDNext),
Neurodevelopment-Expanded
KATNAL2 Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
KCNA2 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
KCNC1 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
KCND3 CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
KCNE1 CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
KCNE2 CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
KCNE3 CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
KCNH2 CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
KCNJ10 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
KCNJ2 CardioNext,
CPVTNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
KCNJ5 CardioNext,
CustomNext-Cardio
KCNJ8 CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
KCNQ1 CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
KCNQ2 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded
KCNQ2 Neonatal Seizures (EpiFirst-Neonate),
Infantile Spasms (EpiFirst-IS) ,
CUSTOMNEXT-EPILEPSY
KCNQ3 Comprehensive Epilepsy Testing (EpilepsyNext),
Neonatal Seizures (EpiFirst-Neonate),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
KCNT1 Comprehensive Epilepsy Testing (EpilepsyNext),
Neonatal Seizures (EpiFirst-Neonate),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Infantile Spasms (EpiFirst-IS) ,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
KCTD7 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
KDM5C Intellectual Disability (IDNext),
Neurodevelopment-Expanded
KIAA2022 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
KIF1A Intellectual Disability (IDNext),
Neurodevelopment-Expanded
KRAS Noonan Syndrome
L1CAM Intellectual Disability (IDNext),
Neurodevelopment-Expanded
LAMA4 CardioNext,
CMNext,
DCMNext,
CustomNext-Cardio
LAMP2 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CustomNext-Cardio
LDB3/ZASP CardioNext,
CMNext,
DCMNext,
LVNCNext,
CustomNext-Cardio
LDLR FHNEXT
LGI1 Comprehensive Epilepsy Testing (EpilepsyNext),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
LINS Intellectual Disability (IDNext),
Neurodevelopment-Expanded
LMNA CardioNext,
CMNext,
DCMNext,
RhythmFirst and RhythmNext,
LVNCNext,
CustomNext-Cardio
LMNA ARVDNext
LRRC6 Primary Ciliary Dyskinesia Testing
MAN1B1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
MAOA Intellectual Disability (IDNext),
Neurodevelopment-Expanded
MAX PGLFirst,
PGLNext,
CancerNext-Expanded,
CustomNext-Cancer
MBD5 Intellectual Disability (IDNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
MECP2 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
MED12 TAADNEXT,
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
CustomNext-TAAD
MED23 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
MEF2C Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
MEFV Familial Mediterranean Fever
MEN1 Multiple Endocrine Neoplasia Type1 (MEN1),
PGLNext,
CancerNext-Expanded,
CustomNext-Cancer
MET RenalNext,
CancerNext-Expanded,
CustomNext-Cancer
MFSD8 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
MID1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
MITF RenalNext,
CancerNext-Expanded,
CustomNext-Cancer
MLH1 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
Lynch Syndrome,
GYNplus,
CancerNext-Expanded,
CustomNext-Cancer,
ProstateNext
MRE11A CancerNext,
BreastNext,
OvaNext,
CancerNext-Expanded,
CustomNext-Cancer
MSH2 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
Lynch Syndrome,
GYNplus,
CancerNext-Expanded,
CustomNext-Cancer,
ProstateNext
MSH6 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
Lynch Syndrome,
GYNplus,
CancerNext-Expanded,
CustomNext-Cancer,
ProstateNext
MUTYH Adenomatous Polyposis,
BreastNext,
CancerNext,
ColoNext,
OvaNext,
MUTYH-associated Polypsis (MAP),
CancerNext-Expanded,
CustomNext-Cancer
MYBPC3 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
LVNCNext,
CustomNext-Cardio
MYH11 TAADNEXT,
CustomNext-TAAD
MYH6 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
MYH7 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
LVNCNext,
CustomNext-Cardio
MYL2 CardioNext,
CMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
MYL3 CardioNext,
CMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
MYLK TAADNEXT,
CustomNext-TAAD
MYOZ2 CardioNext,
CMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
MYPN CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
NBN BreastNext,
CancerNext,
OvaNext,
CancerNext-Expanded,
CustomNext-Cancer,
ProstateNext
NDP Intellectual Disability (IDNext),
Neurodevelopment-Expanded
NDUFA1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
NEXN CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
NF1 Neurofibromatosis 1 (NF1) ,
PGLNext,
OvaNext,
BreastNext,
CancerNext,
CancerNext-Expanded,
CustomNext-Cancer
NHLRC1 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
NHP2 Dyskeratosis Congenita
NHS Intellectual Disability (IDNext),
Neurodevelopment-Expanded
NIPBL Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
Cornelia de lange syndrome
NKX2.5 CardioNext,
CMNext,
DCMNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
NLGN3 Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
NLGN4X Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
NME8 Primary Ciliary Dyskinesia Testing
NOP10 Dyskeratosis Congenita
NOTCH1 TAADNEXT,
CustomNext-TAAD
NRXN1 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
NSD1 Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
Sotos Syndrome
NSUN2 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
OCRL Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
Lowe Syndrome
OFD1 Primary Ciliary Dyskinesia Testing,
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
Oral-Facial-Digital Syndrome Type I
OPHN1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
OTC Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
ORNITHINE TRANSCARBAMYLASE DEFICIENCY
PACS1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
PAK3 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
PALB2 PALB2 Gene Sequence and Deletion/Duplication,
CancerNext,
OvaNext,
PancNext,
CancerNext-Expanded,
BreastNext,
BRCAplus ,
BRCAplus-EXPANDED,
GYNplus,
CustomNext-Cancer,
ProstateNext
PCDH19 Comprehensive Epilepsy Testing (EpilepsyNext),
Febrile Seizures (EpiFirst-Fever),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
PCSK9 FHNEXT
PDHA1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
PDLIM3
PDX1 Maturity-Onset Diabetes of the Young (MODY) Testing
PGK1
PHF6 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
PHF8 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
PHOX2B Congenital Central Hypoventilation Syndrome
PIGA Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
PIGN Intellectual Disability (IDNext),
Neurodevelopment-Expanded
PKP2 CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
PLCB1 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
PLN CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
PLOD1 TAADNEXT,
CustomNext-TAAD
PLP1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
PLP1-Related Disorders
PMS2 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
Lynch Syndrome,
GYNplus,
CancerNext-Expanded,
CustomNext-Cancer,
ProstateNext
PNKP Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
Rett And Angelman Syndromes,
CUSTOMNEXT-EPILEPSY
PNPO Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
POGZ Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
POLD1 ColoNext,
CancerNext-Expanded,
CancerNext,
POLD1 and POLE Analysis,
CustomNext-Cancer
POLE ColoNext,
CancerNext-Expanded,
CancerNext,
POLD1 and POLE Analysis,
CustomNext-Cancer
POLG Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
PORCN Intellectual Disability (IDNext),
Neurodevelopment-Expanded
PPT1 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
PQBP1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
PRICKLE1 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
PRKAG2 CMNext,
CardioNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
PRKG1 TAADNEXT,
CustomNext-TAAD
PRRT2 Comprehensive Epilepsy Testing (EpilepsyNext),
Febrile Seizures (EpiFirst-Fever),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Neurodevelopment-Expanded,
Familial Hemiplegic Migraine,
CUSTOMNEXT-EPILEPSY
PRSS1 Pancreatitis Testing
PTCH1 NEVOID BASAL CELL CARCINOMA SYNDROME (GORLIN SYNDROME)
PTCHD1 Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
PTEN PTEN-Related Disorders,
BreastNext,
CancerNext,
ColoNext,
OvaNext,
BRCAplus ,
RenalNext,
GYNplus,
CancerNext-Expanded,
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
BRCAplus-EXPANDED,
CustomNext-Cancer
PTPN11 Noonan Syndrome,
CardioNext,
CMNext,
HCMFirst and HCMNext ,
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CustomNext-Cardio
PURA Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
RAB39B Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
RAD21 Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
Cornelia de lange syndrome
RAD50 CancerNext,
BreastNext,
OvaNext,
CancerNext-Expanded,
CustomNext-Cancer
RAD51C CancerNext,
BreastNext,
OvaNext,
CancerNext-Expanded,
GYNplus,
CustomNext-Cancer
RAD51D CancerNext,
BreastNext,
OvaNext,
CancerNext-Expanded,
GYNplus,
CustomNext-Cancer,
ProstateNext
RAF1 Noonan Syndrome,
CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
RAI1 Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
Intellectual Disability (IDNext),
Smith-Magenis syndrome
RASA1 Hereditary Hemorrhagic Telangiectasia (HHT) Testing
RB1 Retinoblastoma
RBM20 CardioNext,
CMNext,
DCMNext,
CustomNext-Cardio
RET Multiple Endocrine Neoplasia Type 2 (MEN2),
RET-Related Hirschsprung Disease,
PGLNext,
CancerNext-Expanded,
CustomNext-Cancer
RPGR Primary Ciliary Dyskinesia Testing
RPL10 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
RPL11 Diamond-Blackfan Anemia
RPL19 Diamond-Blackfan Anemia
RPL26 Diamond-Blackfan Anemia
RPL35A Diamond-Blackfan Anemia
RPL5 Diamond-Blackfan Anemia
RPS10 Diamond-Blackfan Anemia
RPS17 Diamond-Blackfan Anemia
RPS19 Diamond-Blackfan Anemia
RPS24 Diamond-Blackfan Anemia
RPS26 Diamond-Blackfan Anemia
RPS6KA3 Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
COFFIN-LOWRY SYNDROME
RPS7 Diamond-Blackfan Anemia
RSPH4A Primary Ciliary Dyskinesia Testing
RSPH9 Primary Ciliary Dyskinesia Testing
RYR2 CardioNext,
CMNext,
ARVDNext,
CPVTNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
SATB2 Intellectual Disability (IDNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
SBDS Shwachman-Diamond Syndrome
SCARB2 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
SCN1A Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded
SCN1A Neonatal Seizures (EpiFirst-Neonate),
Febrile Seizures (EpiFirst-Fever),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Familial Hemiplegic Migraine,
CUSTOMNEXT-EPILEPSY
SCN1B CardioNext,
RhythmFirst and RhythmNext,
Febrile Seizures (EpiFirst-Fever),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Neonatal Seizures (EpiFirst-Neonate),
Neurodevelopment-Expanded,
CustomNext-Cardio,
CUSTOMNEXT-EPILEPSY
SCN2A Comprehensive Epilepsy Testing (EpilepsyNext),
Neonatal Seizures (EpiFirst-Neonate),
Febrile Seizures (EpiFirst-Fever),
Infantile Spasms (EpiFirst-IS) ,
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
SCN2B CardioNext,
CustomNext-Cardio
SCN3B CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
SCN4B CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
SCN5A CardioNext,
CMNext,
DCMNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
SCN8A Comprehensive Epilepsy Testing (EpilepsyNext),
Neonatal Seizures (EpiFirst-Neonate),
Febrile Seizures (EpiFirst-Fever),
Infantile Spasms (EpiFirst-IS) ,
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
SDHA PGLNext,
RenalNext,
CancerNext-Expanded,
PGLFirst,
CustomNext-Cancer
SDHAF2 PGLFirst,
PGLNext,
CancerNext-Expanded,
CustomNext-Cancer
SDHB PGLFirst,
PGLNext,
RenalNext,
CancerNext-Expanded,
CustomNext-Cancer
SDHC PGLFirst,
PGLNext,
RenalNext,
CancerNext-Expanded,
CustomNext-Cancer
SDHD PGLFirst,
PGLNext,
RenalNext,
CancerNext-Expanded,
CustomNext-Cancer
SERPINA1 Alpha-1-Antitrypsin Deficiency
SERPING1 HEREDITARY ANGIOEDEMA
SFTPB Surfactant Dysfunction Testing
SFTPC Surfactant Dysfunction Testing
SGCD
SHANK3 Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
SIK1 Comprehensive Epilepsy Testing (EpilepsyNext),
Neonatal Seizures (EpiFirst-Neonate),
Infantile Spasms (EpiFirst-IS) ,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
SKI TAADNEXT,
CustomNext-TAAD
SLC13A5 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
SLC16A2 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
SLC25A22 Comprehensive Epilepsy Testing (EpilepsyNext),
Infantile Spasms (EpiFirst-IS) ,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
SLC2A1 Comprehensive Epilepsy Testing (EpilepsyNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
SLC2A10 TAADNEXT,
CustomNext-TAAD
SLC35A2 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
SLC6A1 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
SLC6A8 Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
SLC9A6 Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
SMAD3 TAADNEXT,
CustomNext-TAAD
SMAD4 Hereditary Hemorrhagic Telangiectasia (HHT) Testing,
Juvenile Polyposis Syndrome,
ColoNext,
CancerNext-Expanded,
CancerNext,
TAADNEXT,
CustomNext-Cancer,
CustomNext-TAAD
SMARCA2 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
SMARCA4 OvaNext,
CancerNext,
CancerNext-Expanded,
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CustomNext-Cancer
SMARCB1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
SMC1A Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
Cornelia de lange syndrome,
CUSTOMNEXT-EPILEPSY
SMC3 Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
Cornelia de lange syndrome
SMS Intellectual Disability (IDNext),
Neurodevelopment-Expanded
SNAP25 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
SNTA1 CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
SOS1 Noonan Syndrome
SOX3
SPAG1 Primary Ciliary Dyskinesia Testing
SPINK1 Pancreatitis Testing
SPRED1 Legius syndrome
SPTAN1 Comprehensive Epilepsy Testing (EpilepsyNext),
Infantile Spasms (EpiFirst-IS) ,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
ST3GAL3 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
STK11 Peutz-Jeghers Syndrome,
CancerNext,
ColoNext,
OvaNext,
PancNext,
CancerNext-Expanded,
CustomNext-Cancer
STX1B Comprehensive Epilepsy Testing (EpilepsyNext),
Febrile Seizures (EpiFirst-Fever),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
STXBP1 Neonatal Seizures (EpiFirst-Neonate),
Febrile Seizures (EpiFirst-Fever),
Infantile Spasms (EpiFirst-IS) ,
Intellectual Disability (IDNext),
CUSTOMNEXT-EPILEPSY
STXBP1 Comprehensive Epilepsy Testing (EpilepsyNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
SYN1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
SYNGAP1 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
SZT2 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
TAZ CardioNext,
CMNext,
DCMNext,
LVNCNext,
CustomNext-Cardio
TBC1D24 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
TBL1XR1 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
TBR1 Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
TBX1 CardioNext,
CustomNext-Cardio
TBX20 CardioNext,
CMNext,
DCMNext,
CustomNext-Cardio
TBX5 CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
TCAP CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
TCF4 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
TCF4 CUSTOMNEXT-EPILEPSY
TERC Dyskeratosis Congenita,
Telomere-Related Pulmonary Fibrosis
TERT Dyskeratosis Congenita,
Telomere-Related Pulmonary Fibrosis
TGFB2 TAADNEXT,
CustomNext-TAAD
TGFB3 CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext,
TAADNEXT,
CustomNext-Cardio,
CustomNext-TAAD
TGFBR1 TAADNEXT,
CustomNext-TAAD
TGFBR2 TAADNEXT,
CustomNext-TAAD
TIMM8A Intellectual Disability (IDNext),
Neurodevelopment-Expanded
TINF2 Dyskeratosis Congenita
TMEM127 PGLFirst,
PGLNext,
CancerNext-Expanded,
CustomNext-Cancer
TMEM43 CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
TMPO CardioNext,
CMNext,
DCMNext,
CustomNext-Cardio
TNNC1 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
TNNI3 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
TNNT2 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
LVNCNext,
CustomNext-Cardio
TP53 LI-FRAUMENI SYNDROME ,
BreastNext,
CancerNext,
ColoNext,
OvaNext,
BRCAplus ,
RenalNext,
PancNext,
GYNplus,
CancerNext-Expanded,
BRCAplus-EXPANDED,
CustomNext-Cancer,
ProstateNext
TPM1 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
LVNCNext,
CustomNext-Cardio
TPP1 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
TRAPPC9 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
TRDN CardioNext,
CPVTNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
TRPM4 CardioNext,
RhythmFirst and RhythmNext,
CustomNext-Cardio
TSC1 Tuberous Sclerosis Complex,
RenalNext,
CancerNext-Expanded,
Infantile Spasms (EpiFirst-IS) ,
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
CustomNext-Cancer,
CUSTOMNEXT-EPILEPSY
TSC2 RenalNext,
CancerNext-Expanded,
Tuberous Sclerosis Complex,
Infantile Spasms (EpiFirst-IS) ,
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
CustomNext-Cancer,
CUSTOMNEXT-EPILEPSY
TTN CardioNext,
CMNext,
DCMNext,
CustomNext-Cardio
TTR Familial transthyretin amyloidosis,
CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
TUSC3 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
TXNRD2 CardioNext,
CMNext,
DCMNext,
CustomNext-Cardio
UBE2A Intellectual Disability (IDNext),
Neurodevelopment-Expanded
UBE3A Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
UPF3B Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
VCL CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
CustomNext-Cardio
VHL Von Hippel-Lindau Disease,
PGLNext,
RenalNext,
CancerNext-Expanded,
CustomNext-Cancer
VPS13B Intellectual Disability (IDNext),
Neurodevelopment-Expanded
WDR45 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY
WRAP53 Dyskeratosis Congenita
XRCC2 CustomNext-Cancer
ZC4H2 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
ZDHHC9
ZEB2 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded,
CUSTOMNEXT-EPILEPSY