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 XLID Next-Gen Panel
ACSL4/FACL4 XLID Next-Gen Panel
ACTA2 TAADNEXT
ACTC1 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
LVNCNext
ACTN2 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
ACVRL1 Hereditary Hemorrhagic Telangiectasia (HHT) Testing
AGTR2 XLID Next-Gen Panel
AKAP9 CardioNext,
RhythmFirst and RhythmNext
ANK2 CardioNext,
CPVTNext,
RhythmFirst and RhythmNext
ANKRD1 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
AP1S2 XLID Next-Gen Panel
APC Adenomatous Polyposis,
CancerNext,
ColoNext,
PancNext,
APC Analysis,
CancerNext-Expanded
APOB Familial Hypercholesterolemia
ARHGEF6 XLID Next-Gen Panel
ARHGEF9 XLID Next-Gen Panel
ARX XLID Next-Gen Panel
ASPA Canavan Disease Testing
ATM BreastNext,
CancerNext,
OvaNext,
PancNext,
CancerNext-Expanded
ATM ATM-Ataxia Telangiectasia (A-T) & Breast Cancer Susceptibility
ATP6AP2 XLID Next-Gen Panel
ATP7A XLID Next-Gen Panel
ATP7B Wilson Disease
ATRX/XNP/XH2 XLID Next-Gen Panel
BAG3 CardioNext,
CMNext,
DCMNext
BAP1 RenalNext,
CancerNext-Expanded
BARD1 CancerNext,
BreastNext,
OvaNext,
CancerNext-Expanded
BCOR XLID Next-Gen Panel
BMPR1A Juvenile Polyposis AMPLIFIED™,
CancerNext,
ColoNext,
CancerNext-Expanded
BRCA1 BRCAplus ,
BRCA1 AND BRCA2 ,
CancerNext,
BreastNext,
OvaNext,
PancNext,
GYNplus,
CancerNext-Expanded
BRCA2 BRCAplus ,
BRCA1 AND BRCA2 ,
CancerNext,
BreastNext,
OvaNext,
PancNext,
GYNplus,
CancerNext-Expanded
BRIP1 CancerNext,
BreastNext,
OvaNext,
CancerNext-Expanded
BRWD3 XLID Next-Gen Panel
CACNA1C CardioNext,
RhythmFirst and RhythmNext
CACNA2D1 CardioNext,
RhythmFirst and RhythmNext
CACNB2 CardioNext,
RhythmFirst and RhythmNext
CALM1 CardioNext,
CPVTNext,
RhythmFirst and RhythmNext
CALR3
CASK XLID Next-Gen Panel
CASQ2 CardioNext,
CPVTNext,
RhythmFirst and RhythmNext
CAV3 CardioNext,
RhythmFirst and RhythmNext
CBS TAADNEXT
CDH1 Hereditary Diffuse Gastric Cancer,
BreastNext,
CancerNext,
ColoNext,
OvaNext,
BRCAplus ,
CancerNext-Expanded
CDK4 CancerNext,
CancerNext-Expanded,
CDKN2A and CDK4 Testing
CDKL5 XLID Next-Gen Panel,
Rett Syndrome (including atypical Rett syndrome)
CDKN2A CancerNext,
CancerNext-Expanded,
PancNext,
CDKN2A and CDK4 Testing
CFTR Cystic Fibrosis Testing,
Pancreatitis Testing,
Primary Ciliary Dyskinesia Testing
CHD7 CHARGE Syndrome testing
CHEK2 CHEK2-Related Cancer,
BreastNext,
CancerNext,
ColoNext,
OvaNext,
CancerNext-Expanded
CNBP Myotonic dystrophy, type 2
COL3A1 TAADNEXT
COL5A1 TAADNEXT
COL5A2 TAADNEXT
CRYAB CardioNext,
CMNext
CSRP3 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
CTRC Pancreatitis Testing
CUL4B XLID Next-Gen Panel
DCX XLID Next-Gen Panel
DES CardioNext,
CMNext,
DCMNext
DHCR7 Smith-Lemli-Opitz Syndrome (SLOS)
DICER1 Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome
DKC1 Dyskeratosis Congenita,
XLID Next-Gen Panel
DLG3 XLID Next-Gen Panel
DMD CardioNext,
CMNext,
DCMNext
DNAAF1 Primary Ciliary Dyskinesia Testing
DNAAF2 Primary Ciliary Dyskinesia Testing
DNAH11 Primary Ciliary Dyskinesia Testing
DNAH5 Primary Ciliary Dyskinesia Testing
DNAI1 Primary Ciliary Dyskinesia Testing
DNAI2 Primary Ciliary Dyskinesia Testing
DSC2 CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext
DSG2 CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext
DSP CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext
EMD CardioNext,
CMNext
ENG Hereditary Hemorrhagic Telangiectasia (HHT) Testing
EPCAM CancerNext,
ColoNext,
OvaNext,
PancNext,
RenalNext,
Lynch Syndrome,
GYNplus,
CancerNext-Expanded
EYA4 CardioNext,
CMNext,
DCMNext
FANCB XLID Next-Gen Panel
FBN1 TAADNEXT
FBN2 TAADNEXT
FGD1 XLID Next-Gen Panel
FH RenalNext,
CancerNext-Expanded,
Hereditary Leiomyomatosis and Renal Cell Cancer,
PGLNext
FKTN CardioNext,
CMNext,
DCMNext
FLCN RenalNext,
CancerNext-Expanded,
Birt-Hogg-Dubé Syndrome
FLNA/FLN1 TAADNEXT,
XLID Next-Gen Panel
FMR1 Fragile X-Associated Disorders ,
XLID Next-Gen Panel
FMR2 FRAXE (FMR2) DNA Analysis
FOXG1 Rett Syndrome (including atypical Rett syndrome)
FTSJ1 XLID Next-Gen Panel
FXN CardioNext,
CMNext,
HCMFirst and HCMNext
GATA4 CardioNext
GATAD1 CardioNext,
CMNext
GBA Gaucher Disease ,
Gaucher Disease
GCK Maturity-Onset Diabetes of the Young (MODY) Testing
GDF2 Hereditary Hemorrhagic Telangiectasia (HHT) Testing
GDI1 XLID Next-Gen Panel
GJB1/CMTX1 XLID Next-Gen Panel
GK XLID Next-Gen Panel
GLA CardioNext,
CMNext,
HCMFirst and HCMNext
GPC3 XLID Next-Gen Panel
GPD1L CardioNext,
RhythmFirst and RhythmNext
GREM1 ColoNext,
CancerNext-Expanded,
CancerNext
GRIA3 XLID Next-Gen Panel
HBB Beta Thalassemia (Sickle Cell Anemia, Sickle-Beta-Thalassemia)
HCCS XLID Next-Gen Panel
HCN4 CardioNext,
RhythmFirst and RhythmNext
HEXA Tay-Sachs Plus,
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
HPRT1 XLID Next-Gen Panel
HSD17B10/HADH2 XLID Next-Gen Panel
HUWE1 XLID Next-Gen Panel
IDS Hunter Syndrome,
XLID Next-Gen Panel
IL1RAPL1 XLID Next-Gen Panel
ILK
JAG1 Alagille Syndrome Testing,
CardioNext
JPH2 CardioNext,
CMNext,
HCMFirst and HCMNext
JUP CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext
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
KCNJ2 CardioNext,
CPVTNext,
RhythmFirst and RhythmNext
KCNJ5 CardioNext
KCNJ8 CardioNext,
RhythmFirst and RhythmNext
KCNQ1 CardioNext,
RhythmFirst and RhythmNext
KDM5C/JARID1C/SMCX XLID Next-Gen Panel
KIAA2022 XLID Next-Gen Panel
KRAS Noonan Syndrome
L1CAM XLID Next-Gen Panel
LAMA4 CardioNext,
CMNext,
DCMNext
LAMP2 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
XLID Next-Gen Panel
LDB3/ZASP CardioNext,
CMNext,
DCMNext,
LVNCNext
LDLR Familial Hypercholesterolemia
LMNA CardioNext,
CMNext,
DCMNext,
RhythmFirst and RhythmNext
MAOA XLID Next-Gen Panel
MAX Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel ,
PGLNext,
CancerNext-Expanded
MECP2 XLID Next-Gen Panel,
Rett Syndrome (including atypical Rett syndrome)
MED12/HOPA XLID Next-Gen Panel,
TAADNEXT
MEF2C Rett Syndrome (including atypical Rett syndrome)
MEFV Familial Mediterranean Fever
MEN1 Multiple Endocrine Neoplasia Type1 (MEN1),
PGLNext,
CancerNext-Expanded
MET RenalNext,
CancerNext-Expanded
MID1 XLID Next-Gen Panel
MITF RenalNext,
CancerNext-Expanded
MLH1 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
Lynch Syndrome,
GYNplus,
CancerNext-Expanded
MRE11A CancerNext,
BreastNext,
OvaNext,
CancerNext-Expanded
MSH2 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
Lynch Syndrome,
GYNplus,
CancerNext-Expanded
MSH6 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
Lynch Syndrome,
GYNplus,
CancerNext-Expanded
MTM1 XLID Next-Gen Panel
MUTYH Adenomatous Polyposis,
BreastNext,
CancerNext,
ColoNext,
OvaNext,
MUTYH-associated Polypsis (MAP),
CancerNext-Expanded
MYBPC3 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
MYH11 TAADNEXT
MYH6 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
MYH7 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
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
NDP XLID Next-Gen Panel
NDUFA1 XLID Next-Gen Panel
NEBL
NEXN CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
NF1 Neurofibromatosis Type 1 and Legius Syndrome,
PGLNext,
OvaNext,
BreastNext,
CancerNext,
CancerNext-Expanded
NHP2 Dyskeratosis Congenita
NHS XLID Next-Gen Panel
NKX2.5 CardioNext
NLGN3 XLID Next-Gen Panel
NLGN4/NLGN4X XLID Next-Gen Panel
NOP10 Dyskeratosis Congenita
NOTCH1 TAADNEXT
OCRL XLID Next-Gen Panel
OFD1 Primary Ciliary Dyskinesia Testing,
XLID Next-Gen Panel
OPHN1 XLID Next-Gen Panel
OTC XLID Next-Gen Panel
PAK3 XLID Next-Gen Panel
PALB2 PALB2 Gene Sequence and Deletion/Duplication,
CancerNext,
OvaNext,
PancNext,
CancerNext-Expanded,
BreastNext
PCSK9 Familial Hypercholesterolemia
PDHA1 XLID Next-Gen Panel
PDLIM3
PDX1 Maturity-Onset Diabetes of the Young (MODY) Testing
PGK1 XLID Next-Gen Panel
PHF6 XLID Next-Gen Panel
PHF8 XLID Next-Gen Panel
PHOX2B Congenital Central Hypoventilation Syndrome
PKP2 CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext
PLN CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
PLOD1 TAADNEXT
PLP1 XLID Next-Gen Panel
PMS2 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
Lynch Syndrome,
GYNplus,
CancerNext-Expanded,
BreastNext
POLD1 ColoNext,
CancerNext-Expanded,
CancerNext
POLE ColoNext,
CancerNext-Expanded,
CancerNext
PORCN XLID Next-Gen Panel
PQBP1 XLID Next-Gen Panel
PRKAG2
PRKG1 TAADNEXT
PRPS1 XLID Next-Gen Panel
PRSS1 Pancreatitis Testing
PTCH1 PTCH1/Nevoid Basal Cell-Carcinoma Syndrome
PTEN PTEN-Related Disorders,
BreastNext,
CancerNext,
ColoNext,
OvaNext,
BRCAplus ,
RenalNext,
GYNplus,
CancerNext-Expanded
PTPN11 LEOPARD Syndrome,
CardioNext,
CMNext,
HCMFirst and HCMNext ,
Noonan Syndrome
RAD50 CancerNext,
BreastNext,
OvaNext,
CancerNext-Expanded
RAD51C CancerNext,
BreastNext,
OvaNext,
CancerNext-Expanded
RAD51D CancerNext,
BreastNext,
OvaNext,
RAD51D Associated Cancer Risk,
CancerNext-Expanded
RAF1 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
LEOPARD Syndrome,
Noonan 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
RPGR Primary Ciliary Dyskinesia Testing
RPL10 XLID Next-Gen Panel
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/RSK2 XLID Next-Gen Panel
RPS7 Diamond-Blackfan Anemia
RSPH4A Primary Ciliary Dyskinesia Testing
RSPH9 Primary Ciliary Dyskinesia Testing
RYR2 CardioNext,
CMNext,
ARVDNext,
CPVTNext,
RhythmFirst and RhythmNext
SBDS Shwachman-Diamond Syndrome
SCN1B CardioNext,
RhythmFirst and RhythmNext
SCN2B CardioNext
SCN3B CardioNext,
RhythmFirst and RhythmNext
SCN4B CardioNext,
RhythmFirst and RhythmNext
SCN5A CardioNext,
CMNext,
DCMNext,
RhythmFirst and RhythmNext
SDHA PGLNext,
RenalNext,
CancerNext-Expanded
SDHAF2 Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel ,
PGLNext,
CancerNext-Expanded
SDHB Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel ,
PGLNext,
RenalNext,
CancerNext-Expanded
SDHC Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel ,
PGLNext,
RenalNext,
CancerNext-Expanded
SDHD Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel ,
PGLNext,
RenalNext,
CancerNext-Expanded
SERPINA1 Alpha-1-Antitrypsin Deficiency
SERPING1 HAE AMPLIFIED (SERPING1)
SFTPB Surfactant Dysfunction Testing
SFTPC Surfactant Dysfunction Testing
SGCD
SH2D1A SH2D1A-Related X-linked lymphoproliferative disease
SHROOM4/KIAA1202 XLID Next-Gen Panel
SKI TAADNEXT
SLC16A2/MCT8 XLID Next-Gen Panel
SLC2A10 TAADNEXT
SLC9A6 Christianson Syndrome (Angelman-Like Syndrome),
XLID Next-Gen Panel
SMAD3 TAADNEXT
SMAD4 Hereditary Hemorrhagic Telangiectasia (HHT) Testing,
Juvenile Polyposis AMPLIFIED™,
ColoNext,
CancerNext-Expanded,
CancerNext
SMARCA4 OvaNext,
CancerNext,
CancerNext-Expanded
SMC1A/SMC1L1 XLID Next-Gen Panel
SMS XLID Next-Gen Panel
SNTA1 CardioNext,
RhythmFirst and RhythmNext
SOS1 Noonan Syndrome
SOX3 XLID Next-Gen Panel
SPINK1 Pancreatitis Testing
SPRED1 Neurofibromatosis Type 1 and Legius Syndrome
SRPX2 XLID Next-Gen Panel
STK11 Peutz-Jeghers AMPLIFIED™,
CancerNext,
ColoNext,
OvaNext,
PancNext,
CancerNext-Expanded
SYN1 XLID Next-Gen Panel
SYP XLID Next-Gen Panel
TAZ CardioNext
TBX1 CardioNext
TBX20 CardioNext
TBX5 CardioNext
TCAP CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
TERC Dyskeratosis Congenita,
Telomere-Related Pulmonary Fibrosis
TERT Dyskeratosis Congenita,
Telomere-Related Pulmonary Fibrosis
TGFB2 TAADNEXT
TGFB3 CardioNext,
CMNext,
ARVDNext,
RhythmFirst and RhythmNext
TGFBR1 TAADNEXT
TGFBR2 TAADNEXT
TIMM8A XLID Next-Gen Panel
TINF2 Dyskeratosis Congenita
TMEM127 Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel ,
PGLNext,
CancerNext-Expanded
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 (TP53 AMPLIFIED),
BreastNext,
CancerNext,
ColoNext,
OvaNext,
BRCAplus ,
RenalNext,
PancNext,
GYNplus,
CancerNext-Expanded
TPM1 CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext ,
LVNCNext
TRDN CardioNext,
CPVTNext,
RhythmFirst and RhythmNext
TRPM4 CardioNext,
RhythmFirst and RhythmNext
TSC1 RenalNext,
CancerNext-Expanded
TSC2 RenalNext,
CancerNext-Expanded
TSPAN7/TM4SF2 XLID Next-Gen Panel
TTN CardioNext,
CMNext,
DCMNext
TTR Transthyretin Amyloidosis,
CardioNext,
CMNext
TXNDC3 Primary Ciliary Dyskinesia Testing
TXNRD2 CardioNext,
CMNext,
DCMNext
UBE2A XLID Next-Gen Panel
UBE3A
UPF3B XLID Next-Gen Panel
VCL CardioNext,
CMNext,
DCMNext,
HCMFirst and HCMNext
VHL Von Hippel-Lindau Disease,
PGLNext,
RenalNext,
CancerNext-Expanded
WRAP53 Dyskeratosis Congenita
ZDHHC9 XLID Next-Gen Panel
ZNF41 XLID Next-Gen Panel
ZNF674 XLID Next-Gen Panel
ZNF711 XLID Next-Gen Panel
ZNF81 XLID Next-Gen Panel