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Clinical Materials

Evidence-based resources to support patient education, management and decision-making through the genetic testing process.

An Inclusive Approach

Ambry is committed to supporting all patients and families. To address access barriers, we use gender-inclusive terminology throughout our clinical and educational resources. We always update our materials to reflect evolving standards and data. To discuss any needed report adjustment options or learn more about our resources, please contact your local Genomic Science Liaison.

Sample Report
Neurology
AutismNext Negative
(EN)
AutismNext Positive
(EN)
EpilepsyNext Positive
(EN)
SNP Array Pathogenic
(EN)
SNP Array VUS
(EN)
SNP Array Negative
(EN)
Oncology
BRCA2 Reclassification Notice
(EN)
CancerNext – VUS, BRCA1
(EN)
CancerNext +RNAinsight Negative
(EN)
CancerNext-Expanded Amended Pos-P, PMS2, Pos-LP, BRCA2
(EN)
Cardiology
CardioNext VUS
(EN)
FHNext Positive
(EN)
Exome
ExomeNext Candidate (Novel)
(EN)
ExomeNext Negative
(EN)
ExomeNext Negative Secondary Findings
(EN)
ExomeNext Positive
(EN)
ExomeNext Uncertain VUS
(EN)
ExomeReveal Amended Report with RNA Analysis
(EN)
ExomeReveal with VUS – RNA pending
(EN)
Clinical Genomics
GenomeNext Candidate
(EN)
GenomeNext CNV Positive
(EN)
GenomeNext Mito Positive
(EN)
GenomeNext Negative
(EN)
GenomeNext Negative Secondary Findings
(EN)
GenomeNext Noncoding Positive
(EN)
GenomeNext SMN1 Positive
(EN)
GenomeNext STR Positive
(EN)
GenomeNext Trio Positive
(EN)
GenomeNext Uncertain VUS
(EN)
GenomeNextUPDPositive
(EN)
GenomeReveal Amended Report with RNA Analysis
(EN)
GenomeReveal with VUS
(EN)
Clinician Management Resources + Understanding Your Results
Oncology
AIP
(EN) (ES)
ALK
(EN) (ES)
APC Moderate Risk
(EN) (ES)
APC Positive
(EN) (ES)
ATM
(EN) (ES)
AXIN2
(EN) (ES)
BAP1
(EN) (ES)
BARD1
(EN) (ES)
BMPR1A
(EN) (ES)
BRCA1
(EN) (ES)
BRCA2
(EN) (ES)
BRIP1
(EN) (ES)
CDC73
(EN) (ES)
CDH1
(EN) (ES)
CDK4
(EN) (ES)
CDKN1B
(EN) (ES)
CDKN2A
(EN) (ES)
CEBPA
(EN) (ES)
CFTR Monoallelic
(EN) (ES)
CHEK2
(EN) (ES)
CHEK2 Moderate Risk
(EN) (ES)
DDX41
(EN) (ES)
DICER1
(EN) (ES)
EPCAM
(EN) (ES)
ETV6
(EN) (ES)
FH
(EN) (ES)
FLCN
(EN) (ES)
GATA2
(EN) (ES)
GREM1
(EN) (ES)
HOXB13
(EN) (ES)
KIT
(EN) (ES)
Limited evidence genes
(EN) (ES)
LZTR1
(EN) (ES)
MAX
(EN) (ES)
MBD4
(EN) (ES)
MBD4 Biallelic
(EN) (ES)
MEN1
(EN) (ES)
MET
(EN) (ES)
MITF
(EN) (ES)
MLH1
(EN) (ES)
Moderate Risk Genetic Test
(EN) (ES)
MSH2
(EN) (ES)
MSH3
(EN) (ES)
MSH3 Biallelic
(EN) (ES)
MSH6
(EN) (ES)
MUTYH Biallelic
(EN) (ES)
MUTYH Heterozygote
(EN) (ES)
Negative Hereditary Cancer
(EN) (ES)
NF1
(EN)
NF2
(EN) (ES)
NTHL1 Biallelic
(EN) (ES)
NTHL1 Monoallelic
(EN) (ES)
PALB2
(EN) (ES)
PDGFRA
(EN) (ES)
PHOX2B 
(EN) (ES)
PMS2
(EN) (ES)
POLD1
(EN) (ES)
POLE Carrier
(EN) (ES)
POLE Positive
(EN) (ES)
Positive Pancreatitis
(EN) (ES)
POT1
(EN) (ES)
PRSS1
(EN) (ES)
PTCH1
(EN) (ES)
PTEN
(EN) (ES)
RAD51C
(EN) (ES)
RAD51D
(EN) (ES)
RB1
(EN) (ES)
RET
(EN) (ES)
RET Moderate Risk
(EN) (ES)
RPS20
(EN) (ES)
RUNX1
(EN) (ES)
SDHA
(EN) (ES)
SDHAF2
(EN) (ES)
SDHB
(EN) (ES)
SDHC
(EN) (ES)
SDHD
(EN) (ES)
SMAD4
(EN) (ES)
SMARCA4
(EN) (ES)
SMARCB1
(EN) (ES)
SMARCE1
(EN) (ES)
STK11
(EN) (ES)
SUFU
(EN) (ES)
TMEM127
(EN) (ES)
TP53
(EN) (ES)
TP53 Moderate Risk
(EN) (ES)
TSC1
(EN) (ES)
TSC2
(EN) (ES)
VHL
(EN) (ES)
VUS Hereditary Cancer
(EN) (ES)
WT1
(EN) (ES)
Neurology
AutismNext Carrier
(EN) (ES)
Epilepsy Carrier
(EN) (ES)
Negative AutismNext
(EN) (ES)
Negative Epilepsy
(EN) (ES)
Neurodevelopmental Disorder Carrier
(EN) (ES)
Neurodevelopmental Disorder Negative
(EN) (ES)
Neurodevelopmental Disorder Positive
(EN) (ES)
Neurodevelopmental Disorder VUS
(EN) (ES)
Positive AutismNext
(EN) (ES)
Positive Epilepsy
(EN) (ES)
VUS AutismNext
(EN) (ES)
VUS Epilepsy
(EN) (ES)
Clinical Genomics
Chromosomal Microarray Carrier
(EN) (ES)
Chromosomal Microarray Negative
(EN) (ES)
Chromosomal Microarray Positive
(EN) (ES)
Chromosomal Microarray ROH
(EN) (ES)
Chromosomal Microarray VUS
(EN) (ES)
Exome & Genome Negative
(EN) (ES)
Exome & Genome Positive
(EN) (ES)
Exome & Genome Positive Secondary Findings
(EN) (ES)
Exome & Genome Uncertain
(EN) (ES)
General Carrier
(EN) (ES)
General Negative
(EN) (ES)
General Positive
(EN) (ES)
General VUS
(EN) (ES)
Cardiology
CM-AVM – Positive
(EN)
HHTNext – Negative
(EN)
HHTNext – Positive
(EN)
HHTNext – VUS
(EN)
Negative Arrhythmia
(EN)
Negative Cardiovascular
(EN)
Negative Familial Hypercholesterolemia (FH)
(EN)
Negative Hypertrophic Cardiomyopathy (HCM)
(EN)
Negative TTR
(EN)
One Mutation Familial Hypercholesterolemia (FH)
(EN)
Positive Arrhythmia
(EN)
Positive Cardiomyopathy
(EN)
Positive Cardiovascular
(EN)
Positive Hypertrophic Cardiomyopathy (HCM)
(EN)
Positive Thoracic Aortic Aneurysms/Dissections (TAAD)
(EN)
Positive TTR – 1 Mutation
(EN)
Positive TTR (2 Mutations)
(EN)
Two Mutation Familial Hypercholesterolemia (FH)
(EN)
VUS Arrhythmia
(EN)
VUS Cardiomyopathy
(EN)
VUS Cardiovascular
(EN)
VUS Familial Hypercholesterolemia (FH)
(EN)
VUS Hypertrophic Cardiomyopathy (HCM)
(EN)
VUS Thoracic Aortic Aneurysms/Dissections (TAAD)
(EN)
VUS TTR
(EN)
Counseling Aids
Clinical Genomics
ExomeNext
(EN)
Cardiology
Hereditary Cardiovascular Testing
(EN)
Patient Questionnaires
Oncology
Hereditary Cancer
(EN) (ES)
ICD-10 Code Reference Sheets
Cardiology
Cardiovascular Genetics
(EN)
Oncology
Breast Cancer ICD-10 Codes
(EN)
ICD-10 Codes (non-breast)
(EN)
Research Summary
Clinical Genomics
Ambry Patient For Life™ Reanalysis Program Revolutionizes Rare Disease Diagnosis
(EN)
Equitable Reanalysis RFYP
(EN)
Exome Testing and Lower VUS Rates
(EN)
Neurology
Best Practices for Clinical Validity
(EN)
ExomeNext-Rapid Provides Accurate and Fast Diagnosis 
(EN)
Oncology
GDV in Action: RPS20 RFYP
(EN)
Genetic Testing for Triple Negative Breast Cancer
(EN)
Paired DNA and RNA sequencing improves accuracy and detection
(EN)
RFYP: Multiple PVs in Cancer Predisposition Genes
(EN)
RFYP: Transforming Genetic Testing with MAVEs
(EN)
Use of a Patient-Facing Digital Platform to Aid in Genetic Test Result Delivery and Connection to Genetic Counseling Services
(EN)
Moderate Risk TP53 RFYP
(EN)
Research
Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications
(EN)
Ambry CARE Program
RFYP: CARE Validation Study
(EN)
Reference Guide
Neurology
Child Neurology Genetic Testing
(EN)
Clinical Genomics
Clinical Testing Workflow Guide
(EN)
Clinical Genomics Reference Guide
(EN)
Oncology
Hereditary Cancer Panels Brochure
(EN)
Hereditary Colorectal Cancer
(EN)
MedOnc Reference Guide
(EN)
OB-GYN Hereditary Cancer Reference Guide
(EN)
General
United Healthcare
(EN)
White Papers and Case Studies
Oncology
Leveraging Large, Clinically-Based Datasets to Classifi Cancer Predisposition Genes
(EN)
MAVEs Whitepaper
(EN)
The Growing Impact of Concurrent DNA and RNA Sequencing
(EN)
The Role of Gene-Disease Validity in High Quality Test Design
(EN)
Validation of Hereditary Cancer Panels Testing
(EN)
Ambry CARE Program
CARE HCA Case Study
(EN)
CARE LMI White Paper
(EN)
CARE MRA Case Study
(EN)
Clinical Genomics
ExomeReveal
(EN)
Genome Case Study
(EN)
Genome White Paper
(EN)
GenomeReveal Case Study
(EN)
GREGoR Collaboration White Paper
(EN)
Patient for Life: An Innovative Laboratory-Initiated Cohort Reanalysis Program
(EN)