Acne

G6PD

Individuals prior to treatment for acne

Treatment with dapsone

Acute Lymphoblastic Leukemia (ALL)

 TPMT

Individuals prior to treatment for ALL

Treatment with 6-mercaptopurine

Acute Myeloid Leukemia (AML)

FLT3

Individuals prior to treatment for AML

Treatment with standard chemotherapeutic agents or tyrosine kinase inhibitor drugs

Alzheimer's Disease (AD)

ApoE

1) Dementia patients; 2) Individuals with a family history of dementia; and 3) General population

1) Diagnosis; 2) and 3) Predictive testing/ risk assessment

Asthma

ADRB2

Individuals treated for asthma

Treatment with albuterol

Breast Cancer (BrCa)

Multigene panel

General population of women

Predictive testing/risk assessment

Breast Cancer

HER-2/neu

Individuals prior to treatment for BrCa

Treatment with trastuzumab and progression/outcome prediction

Breast Cancer

BRCA1/2

Individuals diagnosed with BrCa and their family members

Management of individuals and early detection/prevention for family members

Breast Cancer

CYP2D6

Individuals prior to treatment for BrCa

Treatment with tamoxifen

Cardiac Channelopathies

Multigene panel

Clinical suspicion or family history of  cardiac channelopathies

Diagnosis and management

Cardiovascular Disease (CVD)

CYP450

Individuals treated for CVD

Treatment with beta-blockers and proton pump inhibitor drugs

Cardiovascular Disease

MTHFR

Individuals with family history of CVD

Prevention and management

Type III Hyperlipoproteinemia

ApoE

Individuals with family history or clinical symptoms of CVD

Diagnosis of Type III hyperlipoproteinemia

Cardiovascular Disease

ApoE

General population

Predictive testing - Risk determination

Chronic Myelogenous Leukemia (CML)

BCR/ABL

Individuals with a diagnosis, clinical suspicion or family history of CML

Diagnosis and treatment monitoring

Colorectal Cancer (CRC)

fecal DNA

General population

Population screening

Cystic Fibrosis (CF)

CFTR

Individuals with clinical suspicion or family history of CF

Diagnosis and carrier testing

Deafness

GJB1, GJB2, GJB3, GJB6

Individuals who failed initial newborn screening hearing tests

Newborn screening follow-up

Diabetes, Type II

PPARg2

1) Individuals with clinical suspicion or family history of diabetes; 2) General population

1) Diagnosis; and 2)  Predictive testing/risk assessment

Diabetes, Type II

TCF7L2

General population

Predictive testing/risk assessment

Mature-Onset Diabetes of the Young (MODY)

Multigene panel

Individuals with suspected or diagnosed MODY

Diagnosis and management

Hereditary Hemochromatosis (HHC)

HFE

1) Individuals with clinical suspicion of HHC; 2)  General population

1) Diagnosis; 2) Predictive testing/risk assessment

Lung Cancer

GSTM1

Individuals with clinical suspicion of lung cancer

Predictive testing/risk assessment

Lung Cancer, Non-Small Cell (NSC)

EGFR

Individuals prior to treatment for NSC lung cancer

Treatment with tyrosine kinase inhibitor (TKI) drugs (gefitinib, erlotinib)

Malignant Hyperthermia

RYR1

High risk individuals prior to surgery

Management in surgery

Melanoma / Pancreatic Cancer

p16

General population

Predictive testing/risk assessment

Myeloproliferative disorders

JAK2

Individuals with clinical suspicion of myeloproliferative disorders

Confirm diagnosis

Pain Management

CYP450

Individuals treated for chronic or acute pain

Treatment with codeine and derivative drugs

Parkinson disease

LRRK2

Individuals with clinical suspicion or family history of Parkinson's disease

Diagnosis and treatment of individuals and family members

Periodontal disease

IL-1

General population

Population screening

Prostate Cancer

uPM3

General adult male population

 Population screening

Retinitis pigmentosa (RP)

ARRP1

Individuals with clinical suspicion or family history of RP

Diagnosis and carrier testing

Thrombophilia

F5, F2

Individuals with family history or clinical suspicion of thrombophilia

Prevention and management

Thrombophilia

VKORC1, CYP2C9

Individuals prior to treatment for thrombophilia

Treatment with warfarin