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
ABCD1 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
ACSL4/FACL4 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
ACTA2 TAADNEXT
ACTC1
ACTN2
ACVRL1 HHT Sequencing, Del/Dup & SMAD4-Related HHT
AGTR2 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
AKAP9
ANK2
ANKRD1
AP1S2 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
APC Adenomatous Polyposis,
CancerNext,
ColoNext,
PancNext,
APC Analysis,
CancerNext-Expanded
APOB Familial Hypercholesterolemia
ARHGEF6 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
ARHGEF9 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
ARX XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
ASPA Canavan Gene Sequence and Deletion/Duplication Analysis,
Canavan Disease
ATM BreastNext,
CancerNext,
OvaNext,
PancNext,
CancerNext-Expanded
ATM ATM-Ataxia Telangiectasia (A-T) & Breast Cancer Susceptibility
ATP6AP2 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
ATP7A XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
ATP7B Wilson Disease
ATRX/XNP/XH2 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
BAG3
BARD1 CancerNext,
BreastNext,
OvaNext,
CancerNext-Expanded
BCOR XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
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 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
CACNA1C
CACNA2D1
CACNB2
CALR3
CASK XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
CASQ2
CAV3
CBS TAADNEXT
CDH1 Hereditary Diffuse Gastric Cancer,
BreastNext,
CancerNext,
ColoNext,
OvaNext,
BRCAplus ,
CancerNext-Expanded
CDKL5 CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome),
XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
CDKN2A CancerNext,
CancerNext-Expanded,
PancNext
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,
CancerNext-Expanded
CNBP Myotonic dystrophy, type 2
COL3A1 TAADNEXT
COL5A1 TAADNEXT
COL5A2 TAADNEXT
CRYAB
CSRP3
CTRC Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence)
CUL4B XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
DCX XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
DES
DHCR7 Smith-Lemli-Opitz Syndrome (SLOS)
DICER1 Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome
DKC1 Dyskeratosis Congenita,
XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
DLG3 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
DMD
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
DSG2
DSP
EMD
ENG HHT Sequencing, Del/Dup & SMAD4-Related HHT
EPCAM CancerNext,
ColoNext,
OvaNext,
PancNext,
RenalNext,
LYNCH SYNDROME/HNPCC DNA ANALYSIS,
GYNplus,
CancerNext-Expanded
EYA4
F2 Thrombophilia FlexPanel
F5 Thrombophilia FlexPanel
FANCB XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
FBN1 TAADNEXT
FBN2 TAADNEXT
FGD1 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
FH RenalNext,
CancerNext-Expanded
FLCN RenalNext,
CancerNext-Expanded
FLNA/FLN1 TAADNEXT,
Targeted XLID Gene Analysis,
XLID Next-Gen Panel (formerly known as XLMR),
XLMR Next-Gen SuperPanel
FMR1 Fragile X DNA Analysis (Fragile X FMR1 Repeat Analysis),
XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
FMR2 FRAXE (FMR2) DNA Analysis
FTSJ1 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
FXN
GATA4
GBA Gaucher Disease ,
Gaucher Disease
GCK Maturity-Onset Diabetes of the Young (MODY) Testing
GDI1 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
GJB1/CMTX1 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
GK XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
GPC3 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
GPD1L
GRIA3 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
HBB Beta Thalassemia (Sickle Cell Anemia, Sickle-Beta-Thalassemia)
HCCS XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
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 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
HSD17B10/HADH2 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
HUWE1 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
IDS Hunter Syndrome,
XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
IL1RAPL1 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
ILK
JAG1 Alagille AMPLIFIED™
JPH2
JUP
KCNE1
KCNE2
KCNE3
KCNH2
KCNJ2
KCNJ8
KCNQ1
KDM5C/JARID1C/SMCX XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
KIAA2022 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
KRAS Noonan Syndrome and Noonan/LEOPARD Syndrome
L1CAM XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
LAMP2 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
LDB3
LDLR Familial Hypercholesterolemia
LMNA
MAOA XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
MAX Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel ,
PGLNext,
CancerNext-Expanded
MECP2 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
MED12/HOPA XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR),
TAADNEXT
MEFV Familial Mediterranean Fever
MEN1 Multiple Endocrine Neoplasia Type1 (MEN1)
MET RenalNext,
CancerNext-Expanded
MID1 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
MITF RenalNext,
CancerNext-Expanded
MLH1 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
LYNCH SYNDROME/HNPCC DNA ANALYSIS,
GYNplus,
CancerNext-Expanded
MRE11A CancerNext,
BreastNext,
OvaNext,
CancerNext-Expanded
MSH2 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
LYNCH SYNDROME/HNPCC DNA ANALYSIS,
GYNplus,
CancerNext-Expanded
MSH6 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
LYNCH SYNDROME/HNPCC DNA ANALYSIS,
GYNplus,
CancerNext-Expanded
MTHFR Thrombophilia FlexPanel
MTM1 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
MUTYH Adenomatous Polyposis,
BreastNext,
CancerNext,
ColoNext,
OvaNext,
MUTYH-associated Polypsis (MAP),
CancerNext-Expanded
MYBPC3
MYH11 TAADNEXT
MYH6
MYH7
MYL2
MYL3
MYLK TAADNEXT
MYOM1
MYOZ2
MYPN
NBN BreastNext,
CancerNext,
OvaNext,
CancerNext-Expanded
NDP XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
NDUFA1 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
NEBL
NEXN
NF1 Neurofibromatosis Type 1 and Legius Syndrome,
PGLNext,
OvaNext,
BreastNext,
CancerNext,
CancerNext-Expanded
NHP2 Dyskeratosis Congenita
NHS XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
NKX2.5
NLGN3 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
NLGN4/NLGN4X XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
NOP10 Dyskeratosis Congenita
NOTCH1 TAADNEXT
OCRL XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
OFD1 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR),
XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
OPHN1 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
OTC XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
PAK3 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
PCSK9 Familial Hypercholesterolemia
PDHA1 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
PDLIM3
PDX1 Maturity-Onset Diabetes of the Young (MODY) Testing
PGK1 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
PHF6 XLID Next-Gen Panel (formerly known as XLMR),
XLMR Next-Gen SuperPanel
PHF8 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
PHOX2B Congenital Central Hypoventilation Syndrome
PKP2
PLN
PLOD1 TAADNEXT
PLP1 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
PMS2 CancerNext,
ColoNext,
OvaNext,
RenalNext,
PancNext,
LYNCH SYNDROME/HNPCC DNA ANALYSIS,
GYNplus,
CancerNext-Expanded,
BreastNext
PORCN XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
PQBP1 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
PRKAG2
PRKG1 TAADNEXT
PRPS1 XLID Next-Gen Panel (formerly known as XLMR),
XLMR Next-Gen SuperPanel
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,
CancerNext-Expanded
PTPN11 LEOPARD Syndrome,
Noonan Syndrome and Noonan/LEOPARD Syndrome
RAD50 CancerNext,
BreastNext,
OvaNext,
CancerNext-Expanded
RAD51C CancerNext,
BreastNext,
OvaNext,
CancerNext-Expanded
RAD51D CancerNext,
BreastNext,
OvaNext,
RAD51D Associated Cancer Risk,
CancerNext-Expanded
RAF1 LEOPARD Syndrome,
Noonan Syndrome and Noonan/LEOPARD Syndrome
RB1 Retinoblastoma
RBM20
RET Multiple Endocrine Neoplasia Type 2 (MEN2),
RET-Related Hirschsprung Disease,
PGLNext,
CancerNext-Expanded
RPGR Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
RPL10 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly 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 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly 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
SBDS Shwachman-Diamond Syndrome
SCN1B
SCN3B
SCN4B
SCN5A
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 Panel (SFTPB, SFTPC, ABCA3)
SFTPC Surfactant Panel (SFTPB, SFTPC, ABCA3)
SGCD
SH2D1A SH2D1A-Related X-linked lymphoproliferative disease
SHROOM4/KIAA1202 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
SKI TAADNEXT
SLC16A2/MCT8 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
SLC2A10 TAADNEXT
SLC9A6 Angelman-like Syndrome, X-Linked ,
XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
SMAD3 TAADNEXT
SMAD4 HHT Sequencing, Del/Dup & SMAD4-Related HHT ,
Juvenile Polyposis AMPLIFIED™,
CancerNext,
ColoNext,
CancerNext-Expanded
SMC1A/SMC1L1 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
SMS XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
SNTA1
SOS1 Noonan Syndrome and Noonan/LEOPARD Syndrome
SOX3 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly 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 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
STK11 Peutz-Jeghers AMPLIFIED™,
CancerNext,
ColoNext,
OvaNext,
PancNext,
CancerNext-Expanded
SYN1 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
SYP XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
TAZ
TBX1
TBX5
TCAP
TERC Dyskeratosis Congenita,
Idiopathic Pulmonary Fibrosis (IPF Telomerase)
TERT Dyskeratosis Congenita,
Idiopathic Pulmonary Fibrosis (IPF Telomerase)
TGFB2 TAADNEXT
TGFBR1 TAADNEXT
TGFBR2 TAADNEXT
TIMM8A XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
TINF2 Dyskeratosis Congenita
TMEM127 Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel ,
PGLNext,
CancerNext-Expanded
TMEM43
TMPO
TNNC1
TNNI3
TNNT2
TP53 Li-Fraumeni Syndrome (TP53 AMPLIFIED),
BreastNext,
CancerNext,
ColoNext,
OvaNext,
BRCAplus ,
RenalNext,
PancNext,
GYNplus,
CancerNext-Expanded
TPM1
TSC1 RenalNext,
CancerNext-Expanded
TSC2 RenalNext,
CancerNext-Expanded
TSPAN7/TM4SF2 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
TTN
TTR Transthyretin Amyloidosis
TXNDC3 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
TXNRD2
UBE2A XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
UBE3A
UPF3B XLID Next-Gen Panel (formerly known as XLMR)
VCL
VHL Von Hippel-Lindau Disease,
PGLNext,
RenalNext,
CancerNext-Expanded
WRAP53 Dyskeratosis Congenita
ZDHHC9 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
ZNF41 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
ZNF674 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
ZNF711 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)
ZNF81 XLMR Next-Gen SuperPanel,
XLID Next-Gen Panel (formerly known as XLMR)