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
ABCD1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
X-Linked Adrenoleukodystrophy
ACSL4 Neurodevelopment-Expanded,
Intellectual Disability (IDNext)
ACSL4/FACL4
ACTA2 TAADNEXT
ACTC1 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
LVNCNext
ACTN2 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
ACVRL1 Hereditary Hemorrhagic Telangiectasia (HHT) Testing
ADNP Neurodevelopment-Expanded,
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext)
AGTR2
AKAP9 CardioNext,
RhythmFirst and RhythmNext
ALDH7A1 Comprehensive Epilepsy Testing (EpilepsyNext),
Neonatal Seizures (EpiFirst-Neonate),
Neurodevelopment-Expanded
ALG13 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
ANK2 CardioNext,
CPVTNext,
RhythmFirst and RhythmNext
ANKRD1 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
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
ARHGEF6
ARHGEF9 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
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
ASPA Canavan Disease Testing
ATM ATAXIA-TELANGIECTASIA ,
BRCAplus-EXPANDED,
CustomNext-Cancer
ATM BreastNext,
CancerNext,
OvaNext,
PancNext,
CancerNext-Expanded,
ATAXIA-TELANGIECTASIA
ATP13A2 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
Neurodevelopment-Expanded
ATP1A2 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded
ATP6AP2
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
BAP1 RenalNext,
CancerNext-Expanded,
CustomNext-Cancer
BARD1 CancerNext,
BreastNext,
OvaNext,
CancerNext-Expanded,
CustomNext-Cancer
BCOR
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
BRCA2 BRCAplus ,
BRCA1 AND BRCA2 ,
CancerNext,
BreastNext,
OvaNext,
PancNext,
GYNplus,
CancerNext-Expanded,
BRCAplus-EXPANDED,
CustomNext-Cancer
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)
CACNA1C Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
CACNA1C CardioNext,
RhythmFirst and RhythmNext
CACNA2D1 CardioNext,
RhythmFirst and RhythmNext
CACNB2 CardioNext,
RhythmFirst and RhythmNext
CALM1 CardioNext,
CPVTNext,
RhythmFirst and RhythmNext
CALR3
CASK Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
CASQ2 CardioNext,
CPVTNext,
RhythmFirst and RhythmNext
CAV3 CardioNext,
RhythmFirst and RhythmNext
CBS TAADNEXT
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
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
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
CHRNA2 Comprehensive Epilepsy Testing (EpilepsyNext),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Neurodevelopment-Expanded
CHRNA4 Comprehensive Epilepsy Testing (EpilepsyNext),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Neurodevelopment-Expanded
CHRNB2 Comprehensive Epilepsy Testing (EpilepsyNext),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Neurodevelopment-Expanded
CLN3 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neurodevelopment-Expanded
CLN5 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
Neurodevelopment-Expanded
CLN6 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
Neurodevelopment-Expanded
CLN8 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded
CLN8 Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease)
CNBP
CNTNAP2 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
COL3A1 TAADNEXT
COL5A1 TAADNEXT
COL5A2 TAADNEXT
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
CRYAB CardioNext,
CMNext
CSRP3 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
CSTB Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neurodevelopment-Expanded
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
CTSF Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
Neurodevelopment-Expanded
CUL4B Intellectual Disability (IDNext),
Neurodevelopment-Expanded
DCX Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
DDX3X Intellectual Disability (IDNext),
Neurodevelopment-Expanded
DEPDC5 Comprehensive Epilepsy Testing (EpilepsyNext),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Neurodevelopment-Expanded
DES CardioNext,
CMNext,
DCMNext
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
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
DNM1 Comprehensive Epilepsy Testing (EpilepsyNext),
Infantile Spasms (EpiFirst-IS) ,
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
DSC2 CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext
DSG2 CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext
DSP CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext
DYNC1H1 Intellectual Disability (IDNext)
DYNC1H1 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded
DYRK1A Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
EEF1A2 Comprehensive Epilepsy Testing (EpilepsyNext),
Infantile Spasms (EpiFirst-IS) ,
Neurodevelopment-Expanded
EHMT1 Intellectual Disability (IDNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded,
Kleefstra Syndrome
EMD CardioNext,
CMNext
ENG Hereditary Hemorrhagic Telangiectasia (HHT) Testing
EPCAM CancerNext,
ColoNext,
OvaNext,
PancNext,
RenalNext,
Lynch Syndrome,
GYNplus,
CancerNext-Expanded,
CustomNext-Cancer
EPM2A Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neurodevelopment-Expanded
EYA4 CardioNext,
CMNext,
DCMNext
FANCB
FBN1 TAADNEXT
FBN2 TAADNEXT
FGD1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
FH RenalNext,
CancerNext-Expanded,
Hereditary Leiomyomatosis and Renal Cell Cancer,
PGLNext,
CustomNext-Cancer
FKTN CardioNext,
CMNext,
DCMNext
FLCN RenalNext,
CancerNext-Expanded,
Birt-Hogg-Dubé Syndrome ,
CustomNext-Cancer
FLNA TAADNEXT,
Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
FMR1 Fragile X-Associated Disorders ,
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
FMR2
FOLR1 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
FOXG1 Infantile Spasms (EpiFirst-IS) ,
Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
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
GABRA1 Comprehensive Epilepsy Testing (EpilepsyNext),
Febrile Seizures (EpiFirst-Fever),
Neurodevelopment-Expanded
GABRB3 Comprehensive Epilepsy Testing (EpilepsyNext),
Febrile Seizures (EpiFirst-Fever),
Neurodevelopment-Expanded
GABRG2 Comprehensive Epilepsy Testing (EpilepsyNext),
Febrile Seizures (EpiFirst-Fever),
Neurodevelopment-Expanded
GALNT12 CustomNext-Cancer
GAMT Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
GATA4 CardioNext
GATAD1 CardioNext,
CMNext
GATM Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
GBA Gaucher Disease
GCK Maturity-Onset Diabetes of the Young (MODY) Testing
GDF2 Hereditary Hemorrhagic Telangiectasia (HHT) Testing
GDI1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
GJB1/CMTX1
GK
GLA CardioNext,
CMNext,
HCMFirst and HCMNext
GNAO1 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
GOSR2 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neurodevelopment-Expanded
GPC3 Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
Simpson-Golabi-Behmel Syndrome
GPD1L CardioNext,
RhythmFirst and RhythmNext
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
GRIN2A Comprehensive Epilepsy Testing (EpilepsyNext),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Infantile Spasms (EpiFirst-IS) ,
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
GRIN2B Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
GRN Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
Neurodevelopment-Expanded
HBB HBB-Related Disorders
HCCS
HCN1 Comprehensive Epilepsy Testing (EpilepsyNext),
Febrile Seizures (EpiFirst-Fever),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
HCN4 CardioNext,
RhythmFirst and RhythmNext
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
HOXA1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
HOXB13 CustomNext-Cancer
HPRT1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
Lesch-Nyhan syndrome
HSD17B10/HADH2
HUWE1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
IDS Hunter Syndrome,
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
IL1RAPL1
ILK
IQSEC2 Comprehensive Epilepsy Testing (EpilepsyNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
IQSEC2 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext)
JAG1 Alagille Syndrome Testing,
CardioNext
JPH2 CardioNext,
CMNext,
HCMFirst and HCMNext
JUP CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext
KAT6A Intellectual Disability (IDNext),
Neurodevelopment-Expanded
KATNAL2 Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
KCNA2 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded
KCNC1 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neurodevelopment-Expanded
KCND3 CardioNext,
RhythmFirst and RhythmNext
KCNE1 CardioNext,
RhythmFirst and RhythmNext
KCNE2 CardioNext,
RhythmFirst and RhythmNext
KCNE3 CardioNext,
RhythmFirst and RhythmNext
KCNH2 CardioNext,
RhythmFirst and RhythmNext
KCNJ10 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
KCNJ2 CardioNext,
CPVTNext,
RhythmFirst and RhythmNext
KCNJ5 CardioNext
KCNJ8 CardioNext,
RhythmFirst and RhythmNext
KCNQ1 CardioNext,
RhythmFirst and RhythmNext
KCNQ2 Neonatal Seizures (EpiFirst-Neonate),
Infantile Spasms (EpiFirst-IS)
KCNQ2 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded
KCNQ3 Comprehensive Epilepsy Testing (EpilepsyNext),
Neonatal Seizures (EpiFirst-Neonate),
Neurodevelopment-Expanded
KCNT1 Comprehensive Epilepsy Testing (EpilepsyNext),
Neonatal Seizures (EpiFirst-Neonate),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Infantile Spasms (EpiFirst-IS) ,
Neurodevelopment-Expanded
KCTD7 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
Neurodevelopment-Expanded
KDM5C Intellectual Disability (IDNext),
Neurodevelopment-Expanded
KIAA2022 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
KIF1A Intellectual Disability (IDNext),
Neurodevelopment-Expanded
KRAS Noonan Syndrome
L1CAM Intellectual Disability (IDNext),
Neurodevelopment-Expanded
LAMA4 CardioNext,
CMNext,
DCMNext
LAMP2 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
LDB3/ZASP CardioNext,
CMNext,
DCMNext,
LVNCNext
LDLR FHNEXT
LGI1 Comprehensive Epilepsy Testing (EpilepsyNext),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Neurodevelopment-Expanded
LINS Intellectual Disability (IDNext),
Neurodevelopment-Expanded
LMNA ARVDNext
LMNA CardioNext,
CMNext,
DCMNext,
RhythmFirst and RhythmNext,
LVNCNext
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
MED12 TAADNEXT,
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
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
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
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
MRE11A CancerNext,
BreastNext,
OvaNext,
CancerNext-Expanded,
CustomNext-Cancer
MSH2 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
Lynch Syndrome,
GYNplus,
CancerNext-Expanded,
CustomNext-Cancer
MSH6 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
Lynch Syndrome,
GYNplus,
CancerNext-Expanded,
CustomNext-Cancer
MTM1
MUTYH Adenomatous Polyposis,
BreastNext,
CancerNext,
ColoNext,
OvaNext,
MUTYH-associated Polypsis (MAP),
CancerNext-Expanded,
CustomNext-Cancer
MYBPC3 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
LVNCNext
MYH11 TAADNEXT
MYH6 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
MYH7 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
LVNCNext
MYL2 CardioNext,
CMNext,
HCMFirst and HCMNext
MYL3 CardioNext,
CMNext,
HCMFirst and HCMNext
MYLK TAADNEXT
MYOM1
MYOZ2 CardioNext,
CMNext,
HCMFirst and HCMNext
MYPN CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
NBN BreastNext,
CancerNext,
OvaNext,
CancerNext-Expanded,
CustomNext-Cancer
NDP Intellectual Disability (IDNext),
Neurodevelopment-Expanded
NDUFA1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
NEBL
NEXN CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
NF1 Neurofibromatosis 1 (NF1) ,
PGLNext,
OvaNext,
BreastNext,
CancerNext,
CancerNext-Expanded,
CustomNext-Cancer
NHLRC1 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neurodevelopment-Expanded
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
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
NRXN1 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
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
PCDH19 Comprehensive Epilepsy Testing (EpilepsyNext),
Febrile Seizures (EpiFirst-Fever),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
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
PIGN Intellectual Disability (IDNext),
Neurodevelopment-Expanded
PKP2 CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext
PLCB1 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded
PLN CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
PLOD1 TAADNEXT
PLP1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
PLP1-Related Disorders
PMS2 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
Lynch Syndrome,
GYNplus,
CancerNext-Expanded,
CustomNext-Cancer
PNKP Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded,
Rett And Angelman Syndromes
PNPO Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded
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
PORCN Intellectual Disability (IDNext),
Neurodevelopment-Expanded
PPT1 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
PQBP1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
PRICKLE1 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neurodevelopment-Expanded
PRKAG2 CMNext,
CardioNext,
HCMFirst and HCMNext
PRKG1 TAADNEXT
PRPS1
PRRT2 Comprehensive Epilepsy Testing (EpilepsyNext),
Febrile Seizures (EpiFirst-Fever),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Neurodevelopment-Expanded
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
PURA Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
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
RAF1 Noonan Syndrome,
CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
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
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
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
SCN1A Neonatal Seizures (EpiFirst-Neonate),
Febrile Seizures (EpiFirst-Fever),
Non-Lesional Focal Epilepsy (EpiFirst-Focal)
SCN1A Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded
SCN1B CardioNext,
RhythmFirst and RhythmNext,
Febrile Seizures (EpiFirst-Fever),
Non-Lesional Focal Epilepsy (EpiFirst-Focal),
Neonatal Seizures (EpiFirst-Neonate),
Neurodevelopment-Expanded
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
SCN2B CardioNext
SCN3B CardioNext,
RhythmFirst and RhythmNext
SCN4B CardioNext,
RhythmFirst and RhythmNext
SCN5A CardioNext,
CMNext,
DCMNext,
RhythmFirst and RhythmNext
SCN8A Comprehensive Epilepsy Testing (EpilepsyNext),
Neonatal Seizures (EpiFirst-Neonate),
Febrile Seizures (EpiFirst-Fever),
Infantile Spasms (EpiFirst-IS) ,
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
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
SH2D1A SH2D1A-Related X-linked lymphoproliferative disease
SHANK3 Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
SHROOM4/KIAA1202
SIK1 Comprehensive Epilepsy Testing (EpilepsyNext),
Neonatal Seizures (EpiFirst-Neonate),
Infantile Spasms (EpiFirst-IS) ,
Neurodevelopment-Expanded
SKI TAADNEXT
SLC13A5 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded
SLC16A2 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
SLC25A22 Comprehensive Epilepsy Testing (EpilepsyNext),
Infantile Spasms (EpiFirst-IS) ,
Neurodevelopment-Expanded
SLC2A1 Comprehensive Epilepsy Testing (EpilepsyNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
SLC2A10 TAADNEXT
SLC35A2 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
SLC6A1 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
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
SMAD3 TAADNEXT
SMAD4 Hereditary Hemorrhagic Telangiectasia (HHT) Testing,
Juvenile Polyposis Syndrome,
ColoNext,
CancerNext-Expanded,
CancerNext,
TAADNEXT,
CustomNext-Cancer
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
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
SNTA1 CardioNext,
RhythmFirst and RhythmNext
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
SRPX2
ST3GAL3 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Neurodevelopment-Expanded
STK11 Peutz-Jeghers Syndrome,
CancerNext,
ColoNext,
OvaNext,
PancNext,
CancerNext-Expanded,
CustomNext-Cancer
STX1B Comprehensive Epilepsy Testing (EpilepsyNext),
Febrile Seizures (EpiFirst-Fever),
Neurodevelopment-Expanded
STXBP1 Neonatal Seizures (EpiFirst-Neonate),
Febrile Seizures (EpiFirst-Fever),
Infantile Spasms (EpiFirst-IS) ,
Intellectual Disability (IDNext)
STXBP1 Comprehensive Epilepsy Testing (EpilepsyNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
SYN1 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
SYNGAP1 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
SYP
SZT2 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded
TAZ CardioNext,
CMNext,
DCMNext,
LVNCNext
TBC1D24 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded
TBL1XR1 Comprehensive Epilepsy Testing (EpilepsyNext),
Neurodevelopment-Expanded
TBR1 Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
TBX1 CardioNext
TBX20 CardioNext,
CMNext,
DCMNext
TBX5 CardioNext,
RhythmFirst and RhythmNext
TCAP CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
TCF4 Comprehensive Epilepsy Testing (EpilepsyNext),
Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
TERC Dyskeratosis Congenita,
Telomere-Related Pulmonary Fibrosis
TERT Dyskeratosis Congenita,
Telomere-Related Pulmonary Fibrosis
TGFB2 TAADNEXT
TGFB3 CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext,
TAADNEXT
TGFBR1 TAADNEXT
TGFBR2 TAADNEXT
TIMM8A Intellectual Disability (IDNext),
Neurodevelopment-Expanded
TINF2 Dyskeratosis Congenita
TMEM127 PGLFirst,
PGLNext,
CancerNext-Expanded,
CustomNext-Cancer
TMEM43 CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext
TMPO CardioNext,
CMNext,
DCMNext
TNNC1 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
TNNI3 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
TNNT2 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
LVNCNext
TP53 LI-FRAUMENI SYNDROME ,
BreastNext,
CancerNext,
ColoNext,
OvaNext,
BRCAplus ,
RenalNext,
PancNext,
GYNplus,
CancerNext-Expanded,
BRCAplus-EXPANDED,
CustomNext-Cancer
TPM1 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
LVNCNext
TPP1 Comprehensive Epilepsy Testing (EpilepsyNext),
Progressive Myoclonus Epilepsy (PMEFirst/PMENext),
Neuronal Ceroid Lipofuscinosis (Batten Disease),
Neurodevelopment-Expanded
TRAPPC9 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
TRDN CardioNext,
CPVTNext,
RhythmFirst and RhythmNext
TRPM4 CardioNext,
RhythmFirst and RhythmNext
TSC1 Tuberous Sclerosis Complex,
RenalNext,
CancerNext-Expanded,
Infantile Spasms (EpiFirst-IS) ,
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
CustomNext-Cancer
TSC2 RenalNext,
CancerNext-Expanded,
Tuberous Sclerosis Complex,
Infantile Spasms (EpiFirst-IS) ,
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded,
CustomNext-Cancer
TSPAN7/TM4SF2
TTN CardioNext,
CMNext,
DCMNext
TTR Transthyretin Amyloidosis,
CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
TUSC3 Intellectual Disability (IDNext),
Neurodevelopment-Expanded
TXNRD2 CardioNext,
CMNext,
DCMNext
UBE2A Intellectual Disability (IDNext),
Neurodevelopment-Expanded
UBE3A Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Rett And Angelman Syndromes,
Neurodevelopment-Expanded
UPF3B Intellectual Disability (IDNext),
Autism Spectrum Disorders (AutismFirst/AutismNext),
Neurodevelopment-Expanded
VCL CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
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
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
ZNF41
ZNF674
ZNF711
ZNF81