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 Panel (SFTPB, SFTPC, ABCA3),
ABCA3-Related Surfactant Dysfunction
ABCC9 Cardiomyopathy Panels,
Pan Cardio Panel
ABCD1 XLID Next-Gen Panel (formally known as XLMR)
ACSL4/FACL4 XLID Next-Gen Panel (formally known as XLMR)
ACTA2 Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel
ACTC1 Cardiomyopathy Panels,
Pan Cardio Panel
ACTN2 Cardiomyopathy Panels,
Pan Cardio Panel
ACVRL1 HHT Sequencing, Del/Dup & SMAD4-Related HHT
AGTR2 XLID Next-Gen Panel (formally known as XLMR)
AKAP9 Arrhythmia Panels,
Pan Cardio Panel
ANK2 Arrhythmia Panels,
Pan Cardio Panel
ANKRD1 Cardiomyopathy Panels,
Pan Cardio Panel
AP1S2 XLID Next-Gen Panel (formally known as XLMR)
APC Adenomatous Polyposis,
CancerNext,
ColoNext,
PancNext,
APC Analysis
APOB Familial Hypercholesterolemia
ARHGEF6 XLID Next-Gen Panel (formally known as XLMR)
ARHGEF9 XLID Next-Gen Panel (formally known as XLMR)
ARX XLID Next-Gen Panel (formally known as XLMR)
ASPA Canavan Gene Sequence and Deletion/Duplication Analysis,
Canavan Disease
ATM BreastNext,
CancerNext,
OvaNext,
PancNext
ATM ATM-Ataxia Telangiectasia (A-T) & Breast Cancer Susceptibility
ATP6AP2 XLID Next-Gen Panel (formally known as XLMR)
ATP7A XLID Next-Gen Panel (formally known as XLMR)
ATP7B Wilson Disease
ATRX/XNP/XH2 XLID Next-Gen Panel (formally known as XLMR)
BAG3 Cardiomyopathy Panels,
Pan Cardio Panel
BARD1 CancerNext,
BreastNext,
OvaNext
BCKDHA
BCOR XLID Next-Gen Panel (formally known as XLMR)
BMPR1A Juvenile Polyposis AMPLIFIED™,
CancerNext,
ColoNext
BRCA1 BRCAplus ,
BRCA1 AND BRCA2 ,
CancerNext,
BreastNext,
OvaNext,
PancNext,
GYNplus
BRCA2 BRCAplus ,
BRCA1 AND BRCA2 ,
CancerNext,
BreastNext,
OvaNext,
PancNext,
GYNplus
BRIP1 CancerNext,
BreastNext,
OvaNext
BRWD3 XLID Next-Gen Panel (formally known as XLMR)
BTD Biotinidase Deficiency
CACNA1C Arrhythmia Panels,
Pan Cardio Panel
CACNA2D1 Arrhythmia Panels,
Pan Cardio Panel
CACNB2 Arrhythmia Panels,
Pan Cardio Panel
CALR3 Cardiomyopathy Panels,
Pan Cardio Panel
CASK XLID Next-Gen Panel (formally known as XLMR)
CASQ2 Arrhythmia Panels,
Pan Cardio Panel
CAV3 Arrhythmia Panels,
Cardiomyopathy Panels,
Pan Cardio Panel
CBS Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel
CDH1 Hereditary Diffuse Gastric Cancer,
BreastNext,
CancerNext,
ColoNext,
OvaNext,
BRCAplus
CDKL5 CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome),
XLID Next-Gen Panel (formally known as XLMR)
CDKN2A Malignant Melanoma CDKN2A(p16INK4a)/ARF(p14ARF),
PancNext,
CancerNext
CFTR Cystic Fibrosis Testing,
Pancreatitis Panel (PRSS1, SPINK1, CFTR),
Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence),
Pancreatitis Amplified (CFTR, PRSS1, SPINK1 with CFTR del/dup),
Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
CHD7 CHARGE Syndrome
CHEK2 CHEK2-Related Cancer,
BreastNext,
CancerNext,
ColoNext,
OvaNext
COL3A1 Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel
CRYAB Cardiomyopathy Panels,
Pan Cardio Panel
CSRP3 Cardiomyopathy Panels,
Pan Cardio Panel
CTRC Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence)
CUL4B XLID Next-Gen Panel (formally known as XLMR)
DCX XLID Next-Gen Panel (formally known as XLMR)
DES Arrhythmia Panels,
Cardiomyopathy Panels,
Pan Cardio Panel
DHCR7 Smith-Lemli-Opitz Syndrome (SLOS)
DICER1 Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome
DKC1 Dyskeratosis Congenita,
XLID Next-Gen Panel (formally known as XLMR)
DLG3 XLID Next-Gen Panel (formally known as XLMR)
DMD Cardiomyopathy Panels,
Pan Cardio Panel
DNAAF1 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
DNAAF2 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
DNAH11 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
DNAH5 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
DNAI1 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
DNAI2 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
DSC2 Arrhythmia Panels,
Cardiomyopathy Panels,
Pan Cardio Panel
DSG2 Arrhythmia Panels,
Cardiomyopathy Panels,
Pan Cardio Panel
DSP Arrhythmia Panels,
Cardiomyopathy Panels,
Pan Cardio Panel
EMD Cardiomyopathy Panels,
Pan Cardio Panel
ENG HHT Sequencing, Del/Dup & SMAD4-Related HHT
EPCAM CancerNext,
ColoNext,
OvaNext,
PancNext,
RenalNext,
LYNCH SYNDROME/HNPCC DNA ANALYSIS,
GYNplus
EYA4 Cardiomyopathy Panels,
Pan Cardio Panel
F2 Thrombophilia FlexPanel
F5 Thrombophilia FlexPanel
FANCB XLID Next-Gen Panel (formally known as XLMR)
FBN1 Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel
FBN2 Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel
FGD1 XLID Next-Gen Panel (formally known as XLMR)
FH RenalNext
FLCN RenalNext
FLNA/FLN1 XLID Next-Gen Panel (formally known as XLMR)
FMR1 Fragile X DNA Analysis (Fragile X FMR1 Repeat Analysis),
XLID Next-Gen Panel (formally known as XLMR)
FMR2 FRAXE (FMR2) DNA Analysis
FTSJ1 XLID Next-Gen Panel (formally known as XLMR)
FXN Cardiomyopathy Panels,
Pan Cardio Panel
GATA4 Pan Cardio Panel
GBA Gaucher Disease ,
Gaucher Disease
GDI1 XLID Next-Gen Panel (formally known as XLMR)
GJB1/CMTX1 XLID Next-Gen Panel (formally known as XLMR)
GK XLID Next-Gen Panel (formally known as XLMR)
GPC3 XLID Next-Gen Panel (formally known as XLMR)
GPD1L Arrhythmia Panels,
Pan Cardio Panel
GRIA3 XLID Next-Gen Panel (formally known as XLMR)
HBB Beta Thalassemia (Sickle Cell Anemia, Sickle-Beta-Thalassemia)
HCCS XLID Next-Gen Panel (formally known as XLMR)
HEXA Tay-Sachs Plus,
Tay-Sachs Disease
HPRT XLID Next-Gen Panel (formally known as XLMR)
HSD17B10/HADH2 XLID Next-Gen Panel (formally known as XLMR)
HUWE1 XLID Next-Gen Panel (formally known as XLMR)
IDS Hunter Syndrome,
XLID Next-Gen Panel (formally known as XLMR)
IKBKAP
IL1RAPL1 XLID Next-Gen Panel (formally known as XLMR)
ILK Cardiomyopathy Panels,
Pan Cardio Panel
JAG1 Alagille AMPLIFIED™,
Pan Cardio Panel
JPH2 Cardiomyopathy Panels,
Pan Cardio Panel
JUP Arrhythmia Panels,
Cardiomyopathy Panels,
Pan Cardio Panel
KCNE1 Arrhythmia Panels,
Pan Cardio Panel
KCNE2 Arrhythmia Panels,
Pan Cardio Panel
KCNE3 Arrhythmia Panels,
Pan Cardio Panel
KCNH2 Arrhythmia Panels,
Pan Cardio Panel
KCNJ2 Arrhythmia Panels,
Pan Cardio Panel
KCNJ8 Arrhythmia Panels,
Pan Cardio Panel
KCNQ1 Arrhythmia Panels,
Pan Cardio Panel
KDM5C/JARID1C/SMCX XLID Next-Gen Panel (formally known as XLMR)
KIAA2022 XLID Next-Gen Panel (formally known as XLMR)
KRAS Noonan Syndrome and Noonan/LEOPARD Syndrome
L1CAM XLID Next-Gen Panel (formally known as XLMR)
LAMP2 Cardiomyopathy Panels,
Pan Cardio Panel,
XLID Next-Gen Panel (formally known as XLMR)
LDB3 Cardiomyopathy Panels,
Pan Cardio Panel
LDLR Familial Hypercholesterolemia
LMNA Arrhythmia Panels,
Cardiomyopathy Panels,
Pan Cardio Panel
MAOA XLID Next-Gen Panel (formally known as XLMR)
MAX Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel ,
PGLNext
MECP2 XLID Next-Gen Panel (formally known as XLMR)
MED12/HOPA XLID Next-Gen Panel (formally known as XLMR)
MEFV Familial Mediterranean Fever
MEN1 Multiple Endocrine Neoplasia Type1 (MEN1)
MET RenalNext
MID1 XLID Next-Gen Panel (formally known as XLMR)
MITF RenalNext
MLH1 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
LYNCH SYNDROME/HNPCC DNA ANALYSIS,
GYNplus
MRE11A CancerNext,
BreastNext,
OvaNext
MSH2 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
LYNCH SYNDROME/HNPCC DNA ANALYSIS,
GYNplus
MSH6 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
LYNCH SYNDROME/HNPCC DNA ANALYSIS,
GYNplus
MTHFR Thrombophilia FlexPanel
MTM1 XLID Next-Gen Panel (formally known as XLMR)
MUTYH Adenomatous Polyposis,
BreastNext,
CancerNext,
ColoNext,
OvaNext,
MUTYH-associated Polypsis (MAP)
MYBPC3 Cardiomyopathy Panels,
Pan Cardio Panel
MYH11 Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel
MYH6 Cardiomyopathy Panels,
Pan Cardio Panel
MYH7 Cardiomyopathy Panels,
Pan Cardio Panel
MYL2 Cardiomyopathy Panels,
Pan Cardio Panel
MYL3 Cardiomyopathy Panels,
Pan Cardio Panel
MYOM1 Cardiomyopathy Panels,
Pan Cardio Panel
MYOZ2 Cardiomyopathy Panels,
Pan Cardio Panel
MYPN Cardiomyopathy Panels,
Pan Cardio Panel
NBN BreastNext,
CancerNext,
OvaNext
NDP XLID Next-Gen Panel (formally known as XLMR)
NDUFA1 XLID Next-Gen Panel (formally known as XLMR)
NEB
NEBL Cardiomyopathy Panels,
Pan Cardio Panel
NEXN Cardiomyopathy Panels,
Pan Cardio Panel
NF1 Neurofibromatosis Type 1 and Legius Syndrome,
PGLNext,
OvaNext,
BreastNext,
CancerNext
NHP2 Dyskeratosis Congenita
NHS XLID Next-Gen Panel (formally known as XLMR)
NKX2.5 Pan Cardio Panel
NLGN3 XLID Next-Gen Panel (formally known as XLMR)
NLGN4/NLGN4X XLID Next-Gen Panel (formally known as XLMR)
NOP10 Dyskeratosis Congenita
NXF5 XLID Next-Gen Panel (formally known as XLMR)
OCRL XLID Next-Gen Panel (formally known as XLMR)
OFD1 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR),
XLID Next-Gen Panel (formally known as XLMR)
OPHN1 XLID Next-Gen Panel (formally known as XLMR)
OTC XLID Next-Gen Panel (formally known as XLMR)
PAK3 XLID Next-Gen Panel (formally known as XLMR)
PALB2 PALB2-Related Cancer,
BreastNext,
CancerNext,
OvaNext,
PancNext
PCDH15
PCSK9 Familial Hypercholesterolemia
PDHA1 XLID Next-Gen Panel (formally known as XLMR)
PDLIM3 Cardiomyopathy Panels,
Pan Cardio Panel
PGK1 XLID Next-Gen Panel (formally known as XLMR)
PHF6 XLID Next-Gen Panel (formally known as XLMR)
PHF8 XLID Next-Gen Panel (formally known as XLMR)
PHOX2B Congenital Central Hypoventilation Syndrome
PKP2 Arrhythmia Panels,
Cardiomyopathy Panels,
Pan Cardio Panel
PLN Cardiomyopathy Panels,
Pan Cardio Panel
PLP1 XLID Next-Gen Panel (formally known as XLMR)
PMS2 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
LYNCH SYNDROME/HNPCC DNA ANALYSIS,
GYNplus
PORCN XLID Next-Gen Panel (formally known as XLMR)
PPT1
PQBP1 XLID Next-Gen Panel (formally known as XLMR)
PRKAG2 Cardiomyopathy Panels,
Pan Cardio Panel
PRPS1 XLID Next-Gen Panel (formally known as XLMR)
PRSS1 Pancreatitis Panel (PRSS1, SPINK1, CFTR),
Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence),
Pancreatitis Amplified (CFTR, PRSS1, SPINK1 with CFTR del/dup)
PTCH1 PTCH1/Nevoid Basal Cell-Carcinoma Syndrome
PTEN PTEN-Related Disorders (including Autism Spectrum Disorder),
BreastNext,
CancerNext,
ColoNext,
OvaNext,
BRCAplus ,
RenalNext,
GYNplus
PTPN11 LEOPARD Syndrome,
Noonan Syndrome and Noonan/LEOPARD Syndrome,
Cardiomyopathy Panels,
Pan Cardio Panel
RAD50 CancerNext,
BreastNext,
OvaNext
RAD51C CancerNext,
BreastNext,
OvaNext
RAD51D CancerNext,
BreastNext,
OvaNext,
RAD51D Associated Cancer Risk
RAF1 LEOPARD Syndrome,
Noonan Syndrome and Noonan/LEOPARD Syndrome,
Cardiomyopathy Panels,
Pan Cardio Panel
RB1 Retinoblastoma
RBM20 Cardiomyopathy Panels,
Pan Cardio Panel
RET Multiple Endocrine Neoplasia Type 2 (MEN2),
RET-Related Hirschsprung Disease,
PGLNext
RPGR Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
RPL10 XLID Next-Gen Panel (formally known as XLMR)
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 (formally known as XLMR)
RPS7 Diamond-Blackfan Anemia
RSPH4A Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
RSPH9 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
RYR2 Arrhythmia Panels,
Cardiomyopathy Panels,
Pan Cardio Panel
SBDS Shwachman-Diamond Syndrome
SCN1B Arrhythmia Panels,
Pan Cardio Panel
SCN3B Arrhythmia Panels
SCN4B Arrhythmia Panels,
Pan Cardio Panel
SCN5A Arrhythmia Panels,
Cardiomyopathy Panels,
Pan Cardio Panel
SDHA PGLNext,
RenalNext
SDHAF2 Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel ,
PGLNext
SDHB Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel ,
PGLNext,
RenalNext
SDHC Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel ,
PGLNext,
RenalNext
SDHD Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel ,
PGLNext,
RenalNext
SERPINA1 Alpha-1-Antitrypsin Deficiency
SERPING1 HAE AMPLIFIED (SERPING1)
SFTPB Surfactant Panel (SFTPB, SFTPC, ABCA3)
SFTPC Surfactant Panel (SFTPB, SFTPC, ABCA3)
SGCD Cardiomyopathy Panels,
Pan Cardio Panel
SHROOM4/KIAA1202 XLID Next-Gen Panel (formally known as XLMR)
SLC16A2/MCT8 XLID Next-Gen Panel (formally known as XLMR)
SLC2A10 Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel
SLC9A6 Angelman-like Syndrome, X-Linked ,
XLID Next-Gen Panel (formally known as XLMR)
SMAD3 Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel
SMAD4 HHT Sequencing, Del/Dup & SMAD4-Related HHT ,
Juvenile Polyposis AMPLIFIED™,
CancerNext,
ColoNext
SMC1A/SMC1L1 XLID Next-Gen Panel (formally known as XLMR)
SMS XLID Next-Gen Panel (formally known as XLMR)
SNTA1 Arrhythmia Panels,
Pan Cardio Panel
SOS1 Noonan Syndrome and Noonan/LEOPARD Syndrome
SOX3 XLID Next-Gen Panel (formally known as XLMR)
SPINK1 Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence),
Pancreatitis Amplified (CFTR, PRSS1, SPINK1 with CFTR del/dup),
Pancreatitis Panel (PRSS1, SPINK1, CFTR)
SPRED1 Neurofibromatosis Type 1 and Legius Syndrome
SRPX2 XLID Next-Gen Panel (formally known as XLMR)
STK11 Peutz-Jeghers AMPLIFIED™,
BreastNext,
CancerNext,
ColoNext,
OvaNext,
BRCAplus ,
PancNext
SYN1 XLID Next-Gen Panel (formally known as XLMR)
SYP XLID Next-Gen Panel (formally known as XLMR)
TAZ Cardiomyopathy Panels,
Pan Cardio Panel
TBX1 Pan Cardio Panel
TBX5 Pan Cardio Panel
TCAP Cardiomyopathy Panels,
Pan Cardio Panel
TERC Dyskeratosis Congenita,
Idiopathic Pulmonary Fibrosis (IPF Telomerase)
TERT Dyskeratosis Congenita,
Idiopathic Pulmonary Fibrosis (IPF Telomerase)
TGFBR1 Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel
TGFBR2 Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel
TIMM8A XLID Next-Gen Panel (formally known as XLMR)
TINF2 Dyskeratosis Congenita
TMEM127 Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel ,
PGLNext
TMEM43 Arrhythmia Panels,
Cardiomyopathy Panels,
Pan Cardio Panel
TMPO Cardiomyopathy Panels,
Pan Cardio Panel
TNNC1 Cardiomyopathy Panels,
Pan Cardio Panel
TNNI3 Cardiomyopathy Panels,
Pan Cardio Panel
TNNT2 Cardiomyopathy Panels,
Pan Cardio Panel
TP53 Li-Fraumeni Syndrome (TP53 AMPLIFIED),
BreastNext,
CancerNext,
ColoNext,
OvaNext,
BRCAplus ,
RenalNext,
PancNext,
GYNplus
TPM1 Cardiomyopathy Panels,
Pan Cardio Panel
TSC1 RenalNext
TSC2 RenalNext
TSPAN7/TM4SF2 XLID Next-Gen Panel (formally known as XLMR)
TTN Cardiomyopathy Panels,
Pan Cardio Panel
TTR Transthyretin Amyloidosis,
Cardiomyopathy Panels,
Pan Cardio Panel
TXNDC3 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
TXNRD2 Cardiomyopathy Panels,
Pan Cardio Panel
UBE2A XLID Next-Gen Panel (formally known as XLMR)
UBE3A
UPF3B
VCL Cardiomyopathy Panels,
Pan Cardio Panel
VHL Von Hippel-Lindau Disease,
PGLNext,
RenalNext
WRAP53 Dyskeratosis Congenita
ZDHHC9 XLID Next-Gen Panel (formally known as XLMR)
ZNF41 XLID Next-Gen Panel (formally known as XLMR)
ZNF674 XLID Next-Gen Panel (formally known as XLMR)
ZNF711 XLID Next-Gen Panel (formally known as XLMR)
ZNF81 XLID Next-Gen Panel (formally known as XLMR)