Tests By Gene

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


Gene(s) Disease Test(s)
ABCA3 ABCA3 Deficiency, Surfactant Dysfunction Gene Sequence Analysis
ACVRL1 Hereditary Hemorrhagic Telangiectasia HHT AMPLIFIED™
ANG Amyotrophic Lateral Sclerosis (ALS) Gene Sequence Analysis
APC Familial Adenomatous Polyposis APC AMPLIFIED™
APOB Familial Hypercholesterolemia Gene Sequence Analysis, Partial Gene Analysis, Deletion/Duplication Analysis
ASPA Canavan Disease Canavan AMPLIFIED™,
Ashkenazi Jewish FlexPanel
ATP7B Wilson Disease Gene Sequence Analysis
BCKDHA, BCKDHB Maple Syrup Urine Disease Ashkenazi Jewish FlexPanel
BLM Bloom Syndrome Ashkenazi Jewish FlexPanel
BMPR1A Juvenile Polyposis Syndrome Juvenile Polyposis AMPLIFIED™,
Gene Sequence Analysis
BMPR2 Pulmonary Arterial Hypertension PAH AMPLIFIED™
CASK CASK-Related XLMR Gene Sequence Analysis
CDKL5 Infantile Spasms Syndrome (ISSX),
Rett Syndrome		 Gene Sequence Analysis
CFTR in Cystic Fibrosis Cystic Fibrosis 508 FIRST™, CF AMPLIFIED™,
Gene Sequence Analysis
Ashkenazi Jewish FlexPanel
CFTR in Pancreatitis Pancreatitis Pancreatitis Panel
Pancreatitis AMPLIFIED™ Panel
CHD7 CHARGE Syndrome Gene Sequence Analysis
CTRC Chymotrypsin C-Related Pancreatitis Gene Sequence Analysis
CYP2C9 Warfarin Sensitivity SNP Analysis
DHCR7 Smith-Lemli-Opitz Syndrome, SLOS Gene Sequence Analysis
DKC1 Dyskeratosis Congenita Dyskeratosis Congenita
DNAH5 Primary Ciliary Dyskinesia PCD 61™
DNAI1 Primary Ciliary Dyskinesia PCD 61™
ENG Hereditary Hemorrhagic Telangiectasia HHT AMPLIFIED™
FANCC Fanconi Anemia Group C Ashkenazi Jewish FlexPanel
FIG4 Amyotrophic Lateral Sclerosis (ALS) Gene Sequence Analysis
FMR1 Fragile X Syndrome PCR and Methylation Analysis
FMR2 FRAXE DNA Analysis
FUS Amyotrophic Lateral Sclerosis (ALS) Gene Sequence Analysis
G6PC Glycogen Storage Disease la Ashkenazi Jewish FlexPanel
Gene Sequence Analysis
GAA Pompe Disease Gene Sequence Analysis
GBA Gaucher Disease Gene Sequence Analysis
Ashkenazi Jewish FlexPanel
GCDH Glutaric Acidemia Type 1 Gene Sequence Analysis
GLA Fabry Disease Gene Sequence Analysis
HBB Beta-Thalassemia and Variants Beta Thalassemia Plus
HEXA Tay-Sachs Disease Tay-Sachs Plus
Ashkenazi Jewish FlexPanel
IKBKAP Familial Dysautonomia Ashkenazi Jewish FlexPanel
IDS Hunter Syndrome Gene Sequence Analysis
IDUA Hurler Syndrome Gene Sequence Analysis
INS Diabetes Neonatal Diabetes
JAG1 Alagille Syndrome Alagille AMPLIFIED™
KCNJ11 Congenital Hyperinsulinism, Diabetes Neonatal Diabetes
Congenital Hyperinsulinism
KRAS Noonan Syndrome Ambry SEQUENCE™, Gene Sequence Analysis
LDLR Familial Hypercholesterolemia Gene Sequence Analysis, Partial Gene Analysis, Deletion/Duplication Analysis
MCOLN1 Mucolipidosis Type IV Ashkenazi Jewish FlexPanel
MECP2 Rett Syndrome, Autism Ambry SEQUENCE™: Rett Syndrome
MEN1 Multiple Endocrine Neoplasia Type1 Gene Sequence Analysis
MLH1 Hereditary Non-Polyposis Colorectal Cancer,
Lynch Syndrome
Click here to Attend our HNPCC WEBINAR!		 MLH1- Related HNPCC/Lynch syndrome, HNPCC/Lynch syndrome SEQUENCE
MSH2 Hereditary Non-Polyposis Colorectal Cancer,
Lynch Syndrome
Click here to Attend our HNPCC WEBINAR!		 MSH2- Related HNPCC/Lynch syndrome, HNPCC/Lynch syndrome SEQUENCE
MSH6 Hereditary Non-Polyposis Colorectal Cancer,
Lynch Syndrome
Click here to Attend our HNPCC WEBINAR!		 MSH6- Related HNPCC/Lynch syndrome, HNPCC/Lynch syndrome SEQUENCE
MT-RNR1 Hearing Loss, Aminoglycoside-Related Gene Sequence Analysis
NHP2 Dyskeratosis Congenita Dyskeratosis Congenita
NOP10 Dyskeratosis Congenita Dyskeratosis Congenita
PAH PKU (Phenylketonuria) Gene Sequence Analysis
PCSK9 Familial Hypercholesterolemia Gene Sequence Analysis, Partial Gene Analysis, Deletion/Duplication Analysis
PHOX2B Congenital Central Hypoventilation Syndrome Gene Sequence Analysis
PALB2 PALB2-Related Cancer
Attend our PALB2-Related Cancer WEBINAR!		 Gene Sequence Analysis
PRSS1 Pancreatitis Pancreatitis Panel
Pancreatitis AMPLIFIED™ Panel
PTEN PTEN-Related Disorders/ Autism Gene Sequence Analysis
PTPN11 Noonan Syndrome
LEOPARD Syndrome		 Ambry SEQUENCE™, Gene
Sequence Analysis
LEOPARD Syndrome
RAF1 Noonan Syndrome
LEOPARD Syndrome		 Ambry SEQUENCE™, Gene
Sequence Analysis
LEOPARD Syndrome
RET Multiple Endocrine Neoplasia Type 2 Gene Sequence Analysis
RET RET-Related Hirschsprung Disease Gene Sequence Analysis
RPL5 Diamond-Blackfan Anemia Gene Sequence Analysis
RPL11 Diamond-Blackfan Anemia Gene Sequence Analysis
RPL35A Diamond-Blackfan Anemia Gene Sequence Analysis
RPS7 Diamond-Blackfan Anemia Gene Sequence Analysis
RPS10 Diamond-Blackfan Anemia Gene Sequence Analysis
RPS19 Diamond-Blackfan Anemia Gene Sequence Analysis
RPS17 Diamond-Blackfan Anemia Gene Sequence Analysis
RPS24 Diamond-Blackfan Anemia Gene Sequence Analysis
RPS26 Diamond-Blackfan Anemia Gene Sequence Analysis
SBDS Shwachman-Diamond Syndrome Gene Sequence Analysis
SERPINA1 Alpha-1-Antitrypsin Deficiency Gene Sequence Analysis
SERPING1 Hereditary Angioedema Gene Sequence Analysis
SFTPB Surfactant Protein B Deficiency Gene Sequence Analysis
SFTPC Surfactant Protein C Deficiency Gene Sequence Analysis
SLC37A4 Glycogen Storage Disease Type Ib Gene Sequence Analysis
SLC9A6 X-linked Angelman-like Syndrome
X-linked Mental Retardation		 Gene Sequence Analysis,
Angelman Like Syndrome
SMAD4 in HHT Hereditary Hemorrhagic Telangiectasia SMAD4-Related HHT
SMAD4 in JPS Juvenile Polyposis Syndrome Juvenile Polyposis AMPLIFIED™,
Gene Sequence Analysis
SMPD1 Niemann-Pick Disease Type A
Niemann-Pick Disease Type A & B		 Ashkenazi Jewish FlexPanel
Gene Sequence Analysis
SNRPN methylation Angelman Syndrome
Prader-Willi Syndrome		 Methylation Analysis
Gene Sequence Analysis,
Angelman SEQUENCE™,
SOD1 Amyotrophic Lateral Sclerosis (ALS) Gene Sequence Analysis
SOS1 Noonan Syndrome Ambry SEQUENCE™,
Gene Sequence Analysis
SPINK1 Pancreatitis Pancreatitis Panel
Pancreatitis AMPLIFIED™ Panel
STK11 Peutz-Jeghers Syndrome Peutz-Jeghers AMPLIFIED™
TACSTD/EPCAM Hereditary Non-Polyposis Colorectal Cancer,
Lynch Syndrome
Click here to Attend our HNPCC WEBINAR!		 TACSTD1/EPCAM-Related HNPCC/Lynch syndrome
TARDBP Amyotrophic Lateral Sclerosis (ALS) Gene Sequence Analysis
TERC Pulmonary Fibrosis Dyskeratosis Congenita
IPF Telomerase
TERT Pulmonary Fibrosis Dyskeratosis Congenita
IPF Telomerase
TINF2 Dyskeratosis Congenita Dyskeratosis Congenita
TP53 Li-Fraumeni Syndrome Gene Sequence and Deletion/Duplication Analysis
TTR Transthyretin Amyloidosis Gene Sequence Analysis
UBE3A Angelman Syndrome Gene Sequence Analysis,
Angelman SEQUENCE
VKORC1 Warfarin Sensitivity SNP Analysis
VHL Von Hippel-Lindau Disease Gene Sequence Analysis
X-Linked Intellectual Disabilities, multiple genes XLMR XLMR SuperPANEL™,
XLMR Array Plus™,
XLMR Next Gen Sequencing,
Fragile X,
FRAXE,
MECP2