Tests By Specialty

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


Specialty Gene(s) Test(s)
Cancer    
Familial Adenomatous Polyposis APC Gene Sequence Analysis
Hereditary Non-Polyposis Colorectal Cancer,
Lynch Syndrome
Click here to Attend our HNPCC WEBINAR!		 MLH1, MSH2, and MSH6, TACSTD1/EPCAM Ambry SEQUENCE™, Gene Sequence Analysis, deletion/duplication analysis
Juvenile Polyposis AMPLIFIED™ BMPR1A, SMAD4 Juvenile Polyposis AMPLIFIED™
Li-Fraumeni Syndrome TP53 Gene Sequence and Deletion/Duplication Analysis
Multiple Endocrine Neoplasia Type 1 MEN1 Gene Sequence Analysis
Multiple Endocrine Neoplasia Type 2 MEN2 Gene Sequence Analysis
PALB2-Related Cancer
Click here to Attend our PALB2 WEBINAR!		 PALB2 Gene Sequence Analysis
Peutz-Jeghers Syndrome STK11 Peutz-Jeghers AMPLIFIED™
PTEN-Related Disorders PTEN Gene Sequence Analysis
Von Hippel-Lindau Disease VHL Gene Sequence Analysis
Chromosomal Microarray Analysis    
Chromosomal Microarray (180K) multiple Ambry CMA: 180k Oligo Array
Cystic Fibrosis & Pulmonology    
Alpha-1-Antitrypsin Deficiency SERPINA1 Gene Sequence Analysis
Congenital Central Hypoventilation Syndrome PHOX2B Gene Sequence Analysis with Polyalanine Repeat Numbers
Cystic Fibrosis CFTR 508 FIRST™, CF AMPLIFIED™,
Gene Sequence Analysis
Primary Ciliary Dyskinesia DNAI1, DNAH5 PCD 61™
Pulmonary Arterial Hypertension BMPR2 PAH AMPLIFIED™
Pulmonary Fibrosis TERC, TERT IPF Telomerase
Surfactant Deficiency ABCA3, SFTPB, SFTPC Gene Sequence Analysis
Endocrinology    
Congenital Hyperinsulinism GCK, GLUD1, KCNJ11 Gene Sequence Analysis
Neonatal Diabetes GCK, INS, IPF1, KCNJ11 Neonatal Diabetes
Gastroenterology    
Pancreatitis CFTR, CTRC, PRSS1, SPINK1 Pancreatitis Panel, Pancreatitis AMPLIFIED™ Panel, Chymotrypsin C-Related Pancreatitis
RET-Related Hirschsprung Disease RET Gene Sequence Analysis
Wilson Disease ATP7B Gene Sequence Analysis
Genetics    
Alagille Syndrome JAG1 Alagille AMPLIFIED™
Amyotrophic Lateral Sclerosis (ALS) ANG, FIG4, FUS, SOD1, TARDBP Gene Sequence Analysis
Angelman Syndrome UBE3A, SNRPN methylation testing Gene Sequence Analysis,
Angelman SEQUENCE™
Angelman-like Syndrome, X-linked SLC9A6 Gene Sequence Analysis
Ashkenazi Jewish FlexPanel ASPA, BCKDHA, BCKDHB, BLM, CFTR, FANCC, GBA, G6PC, HEXA, IKBKAP, MCOLN1, SMPD1 Ashkenazi Jewish FlexPanel
Beta Thalassemia HBB Beta Thalassemia Plus
Canavan Disease ASPA Canavan AMPLIFIED™
CHARGE Syndrome CHD7 Gene Sequence Analysis
Diamond-Blackfan Anemia RPS19, RPL5, RPL11, RPL35A, RPS26, RPS24, RPS17, RPS17, RSP10 Gene Sequence Analysis
Dyskeratosis Congenita DKC1, NHP2, NOP10, TERC, TERT, TINF2 Full and Partial Gene Sequence Analysis
Familial Hypercholesterolemia LDLR, APOB, PCSK9 Gene Sequence Analysis,
Partial Gene Analysis,
Deletion/Duplication Analysis
Hearing Loss, Aminoglycoside-Related MT-RNR1 Gene Sequence Analysis
Hereditary Angioedema SERPING1 Gene Sequence Analysis
Hereditary Hemorrhagic Telangiectasia ACVRL1, ENG, SMAD4 HHT AMPLIFIED™
LEOPARD Syndrome PTPN11, RAF1 Gene Sequence Analysis
Neimann-Pick Disease Types A & B SMPD1 Gene Sequence Analysis
Noonan Syndrome KRAS, PTPN11, RAF, SOS1 Ambry SEQUENCE™,
Gene Sequence Analysis
Prader-Willi Syndrome SNRPN methylation testing Methylation Analysis
Shwachman-Diamond Syndrome (SDS) SBDS Gene Sequence Analysis
Sickle-Beta Thalassemia HBB Beta Thalassemia Plus
Smith-Lemli-Opitz Syndrome, SLOS DHCR7 Gene Sequence Analysis
Tay-Sachs Disease HEXA Tay-Sachs Plus
Transthyretin Amyloidosis TTR Gene Sequence Analysis
Warfarin Sensitivity VKORC1, CYP2C9 SNP Analysis
Metabolic Disorders    
Fabry Disease GLA Gene Sequence Analysis
Gaucher Disease GBA Gene Sequence Analysis
Glutaric Acidemia Type 1 GCDH Gene Sequence Analysis
Glycogen Storage Disease Type Ia G6PC Gene Sequence Analysis
Glycogen Storage Disease Type Ib SLC37A4
 Gene Sequence Analysis
Hunter Syndrome IDS Gene Sequence Analysis
Hurler Syndrome IDUA Gene Sequence Analysis
PKU (Phenylketonuria) PAH Gene Sequence Analysis
Pompe Disease GAA Gene Sequence Analysis
Neurology    
Atypical Rett Syndrome/ Infantile Spasms CDKL5 Gene Sequence Analysis
Autism/Autism Spectrum Disorder CDKL5, MECP2,
PTEN,
Multiple		 Ambry SEQUENCE™: Rett Syndrome
PTEN-Related Disorder
Ambry CMA: 105k Oligo Array
CASK-Related XLMR CASK Gene Sequence Analysis
Fragile X Syndrome FMR1 PCR and Methylation Analysis
FRAXE FMR2 DNA Analysis
Rett Syndrome CDKL5, MECP2 Ambry SEQUENCE™: Rett Syndrome
X-Linked Intellectual Disabilities Multiple XLMR SuperPANEL™,
XLMR Array Plus™,
XLMR Next Gen Sequencing,
Fragile X,
FRAXE,
MECP2