Testing and Specialty Areas
Our flexible testing options range from targeted panels, single genes, to broader approaches like exome sequencing. This helps you choose the right approach for each patient and specialty area.
Ehlers-Danlos, vascular type (EDS IV)
Product
Oncology
Peutz-Jeghers syndrome
Product
Neurology
Legius Syndrome
Product
Clinical Genomics
HBB-related disorders
Product
Clinical Genomics
Shwachman-Diamond syndrome
Product
Oncology
Multiple endocrine neoplasia type 4
Product
Oncology
Microsatellite instability (MSI) analysis
Product
Oncology
PALB2-associated cancer
Product
Oncology
Hereditary Mixed Polyposis Syndrome
Product
Clinical Genomics
Karyotype
Product
Neurology
NeuropathySelect
Product
Clinical Genomics
Surfactant Dysfunction
Product
Oncology
Peutz-Jeghers syndrome
Product
Oncology
Multiple endocrine neoplasia type 4
Product
Oncology
Microsatellite instability (MSI) analysis
Product
Oncology
PALB2-associated cancer
Product
Oncology
Hereditary Mixed Polyposis Syndrome
Product
Oncology
PGLNext®
Product
Oncology
PTEN-related Disorders
Product
Oncology
Adenomatous polyposis
Product
Oncology
BRCA1 and BRCA2
Product
Oncology
CHEK2-related Cancer
Product
Oncology
Hereditary Retinoblastoma
Product
Oncology
Familial adenomatous polyposis (FAP)
Product
Cardiology
LVNCNext
Product
Cardiology
ARVCNext™
Product
Cardiology
CPVTNext®
Product
Cardiology
FHNext®
Product
Cardiology
Other Lipid Disorders
Product
Cardiology
Transthyretin Amyloidosis
Product
Cardiology
CMNext®
Product
Cardiology
CardioNext®
Product
Cardiology
CustomNext-Cardio®
Product
Cardiology
TAADNext®
Product
Cardiology
LongQTNext / RhythmNext®
Product
Cardiology
HCMNext®
Product
Clinical Genomics
HBB-related disorders
Product
Clinical Genomics
Shwachman-Diamond syndrome
Product
Clinical Genomics
Karyotype
Product
Clinical Genomics
Surfactant Dysfunction
Product
Clinical Genomics
Congenital central hypoventilation syndrome (CCHS)
Product
Clinical Genomics
Multiple endocrine neoplasia type 2 (MEN2) and familial medullary thyroid cancer (FMTC)
Product
Clinical Genomics
Multiple endocrine neoplasia type 1 (MEN1)
Product
Clinical Genomics
Juvenile polyposis syndrome
Product
Clinical Genomics
von Hippel-Lindau disease
Product
Clinical Genomics
DBANext
Product
Clinical Genomics
CdLSNext
Product
Clinical Genomics
CHARGE syndrome
Product
Neurology
Legius Syndrome
Product
Neurology
NeuropathySelect
Product
Neurology
Li-Fraumeni Syndrome
Product
Neurology
Ataxia-Telangiectasia
Product
Neurology
Tuberous Sclerosis Complex
Product
Neurology
Neurofibromatosis 1
Product
Neurology
Schwannomatosis
Product
Neurology
Neurofibromatosis 2
Product
Neurology
EpiFirst-Fever®
Product
Neurology
EpiFirst-Focal®
Product
Neurology
EpiFirst-IS®
Product
Neurology
Intellectual Disability (IDNext®)
Product
Why Ambry
Quality and accuracy are foundational to genetic testing. Ambry goes further with dedicated support, scientific expertise, and a longstanding commitment to finding answers for patients and providers.
For over 25 years, we’ve combined innovation with a relentless pursuit to deliver clearer insights and informed care decisions.
For over 25 years, we’ve combined innovation with a relentless pursuit to deliver clearer insights and informed care decisions.
Selecting and Ordering Testing
AmbryPort simplifies choosing the right test and ordering, all while connecting you to the support and resources needed throughout the process.
Step
Send Sample to Ambry
Step
Ambry Completes Testing
Step
Results Available in AmbryPort
Additional Solutions
Ambry offers digital tools and programs to help you identify high-risk patients, support clinical workflows, and expand access to genetic testing that informs healthcare decisions.
The CARE Program®
CARE (Comprehensive Assessment Risk and Education) uses digital health tools to help you identify patients at increased risk for hereditary cancer and those eligible for genetic testing with educational resources, ordering, reporting, and genetic counseling support built into clinic workflows.
Progeny
Progeny is a software platform that helps teams manage family history, hereditary disease risk assessment, pedigree generation, reporting, and patient data across clinical and research genetics workflows.