Tests By Disease

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


Disease Gene(s) Test(s)
Alagille Syndrome JAG1 Alagille AMPLIFIED™
Alpha-1-Antitrypsin Deficiency SERPINA1 Gene Sequence Analysis
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, X-linked, Syndrome
X-linked Intellectual Disabilities 		SLC9A6 Gene Sequence Analysis
Ashkenazi Jewish FlexPanel ASPA, BCKDHA, BCKDHB, BLM, CFTR, FANCC, GBA, G6PC, HEXA, IKBKAP, MCOLN1, SMPD1 Ashkenazi Jewish FlexPanel
Atypical Rett Syndrome CDKL5 Gene Sequence Analysis
Autism/Autism Spectrum Disorder CDKL5, MECP2,
PTEN,
Multiple		 Ambry SEQUENCE™: Rett Syndrome
PTEN-Related Disorder
Ambry CMA: 105k Oligo Array
Beta Thalassemia HBB Beta Thalassemia Plus
Canavan Disease ASPA Canavan AMPLIFIED™
CASK-Related XLMR CASK Gene Sequence Analysis
CHARGE Syndrome CHD7 Gene Sequence Analysis
Chromosomal Microarray Multiple Ambry CMA: 180k Oligo Array
Congenital Central
Hypoventilation Syndrome		 PHOX2B Gene Sequence Analysis with Polyalanine Repeat Numbers
Cystic Fibrosis CFTR 508 FIRST™, CF AMPLIFIED™,
Gene Sequence Analysis
Diamond-Blackfan Anemia RPS19, RPL5, RPL11, RPL35A, RPS24, RPS17, RPS7, RPS26, RPS10 Gene Sequence Analysis
Dyskeratosis Congenita DKC1, NHP2, NOP10, TERC, TERT, TINF2 Full and Partial Gene Sequence Analysis
Fabry Disease GLA Gene Sequence Analysis
Familial Adenomatous Polyposis APC APC AMPLIFIED™
Familial Hypercholesterolemia LDLR, APOB, PCSK9 Gene Sequence Analysis, Partial Gene Analysis, Deletion/Duplication Analysis
Fragile X Syndrome FMR1 PCR and Methylation Analysis
FRAXE FMR2 DNA 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
Hearing Loss, Aminoglycoside-Related MT-RNR1 Gene Sequence Analysis
Hereditary Angioedema SERPING1 Gene Sequence Analysis
Hereditary Hemorrhagic Telangiectasia ACVRL1, ENG, SMAD4 HHT AMPLIFIED™
Hereditary Non-Polyposis Colorectal Cancer, Lynch Syndrome
Click here to Attend our HNPCC WEBINAR!		 MLH1, MSH2, MSH6,and TACSTD1/EPCAM MLH1, MSH2, and MSH6-Related HNPCC/Lynch syndrome, HNPCC/Lynch syndrome SEQUENCE
Hunter Syndrome IDS Gene Sequence Analysis
Hurler Syndrome IDUA Gene Sequence Analysis
Infantile Spasms CDKL5 Gene Sequence Analysis
Interstitial Lung Disease ABCA3, SFTPC Gene Sequence Analysis
Juvenile Polyposis AMPLIFIED™ BMPR1A, SMAD4 Juvenile Polyposis AMPLIFIED™
LEOPARD Syndrome PTPN11, RAF1 Ambry Test
Gene Sequence Analysis
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
Neimann-Pick Disease Types A & B SMPD1 Gene Sequence Analysis
Neonatal Respiratory Failure ABCA3, SFTPB Gene Sequence Analysis
Noonan Syndrome KRAS, PTPN11, RAF, SOS1 Ambry SEQUENCE™,
Gene Sequence Analysis
PALB2-Related Cancer
Attend our PALB2-Related Cancer WEBINAR!		 PALB2 Gene Sequence Analysis
Pancreatitis CFTR, CTRC, PRSS1, SPINK1 Pancreatitis Panel, Pancreatitis AMPLIFIED™ Panel, Chymotrypsin C-Related Pancreatitis
Peutz-Jeghers Syndrome STK11 Peutz-Jeghers AMPLIFIED™
PKU (Phenylketonuria) PAH Gene Sequence Analysis
Pompe Disease GAA Gene Sequence Analysis
Prader-Willi Syndrome SNRPN methylation testing Methylation Analysis
Primary Ciliary Dyskinesia DNAI1, DNAH5 PCD 61™
PTEN-Related Disorders PTEN Gene Sequence Analysis
Pulmonary Arterial Hypertension BMPR2 PAH AMPLIFIED™
Pulmonary Fibrosis TERC, TERT IPF Telomerase
RET-Related Hirschsprung Disease RET Gene Sequence Analysis
Rett Syndrome CDKL5, MECP2 Ambry SEQUENCE™: Rett Syndrome
Shwachman-Diamond Syndrome (SDS) SBDS Gene Sequence Analysis
Sickle-Beta Thalassemia HBB Beta Thalassemia Plus
Smith-Lemli-Opitz Syndrome, SLOS DHCR7 Gene Sequence Analysis
Surfactant Deficiency or Dysfunction ABCA3, SFTPB, SFTPC Gene Sequence Analysis
Tay-Sachs Disease HEXA Tay-Sachs Plus
Transthyretin Amyloidosis TTR Gene Sequence Analysis
Von Hippel-Lindau Disease VHL Gene Sequence Analysis
Warfarin Sensitivity VKORC1, CYP2C9 SNP Analysis
Wilson Disease ATP7B Gene Sequence Analysis
X-Linked Intellectual Disabilities Multiple XLMR SuperPANEL™,
XLMR Array Plus™,
XLMR Next Gen Sequencing,
Fragile X,
FRAXE,
MECP2