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| Disease/Disorder | Test or Application | Intended Use | Tier Classified | Detail |
|---|---|---|---|---|
| Cystic fibrosis (CF) | CFTR (detection of F508del homozygousity) | Pharmacogenomic for ivacaftor and lumacaftor combination | Tier 1
|
|
| Hypertrophic cardiomyopathy (HCM) - symptoms and signs of disease suggesting specific causes of HCM | Genetic testing (including analysis of most frequently implicated sarcomere protein genes) | Confirm diagnosis of HCM | Tier 1
|
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| Hypertrophic cardiomyopathy (HCM) | Genetic testing (including analysis of most frequently implicated sarcomere protein genes) | Enable cascade screening of relatives | Tier 1
|
|
| Hypertrophic cardiomyopathy (HCM) that cannot be explained solely by non-genetic cause | Genetic counseling | Help patients understand and manage HCM | Tier 1
|
|
| Chronic obstructive pulmonary disease, including chronic bronchitis and/or emphysema | UGT1A1 | Pharmacogenomic for indacaterol | Tier 2
|
|
| Narcolepsy, obstructive sleep apnea, and shift work disorder | CYP2D6 | Pharmacogenomic for modafinil, dose | Tier 2
|
|
| Insomnia | CYP2D6, CYP2C19 | Pharmacogenomic for doxepin, dose | Tier 2
|
|
| Thrombocytopenia | F5, SERPINC1 | Pharmacogenomic for eltrombopag | Tier 2
|
|
| Hypercholesterolemia | LDLR | Pharmacogenomic for pravastatin | Tier 2
|
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| Acute coronary syndrome | CYP2C19 | Pharmacogenomic for ticagrelor | Tier 2
|
|
| Acute coronary syndrome managed with percutaneous coronary intervention | CYP2C19 | Pharmacogenomic for prasugrel | Tier 2
|
|
| Non-ST-segment elevation acute coronary syndrome, ST-elevation myocardial infarction, myocardial infarction, stroke, peripheral arterial disease | CYP2C19 | Pharmacogenomic for clopidogrel | Tier 2
|
|
| Atrial fibrillation | CYP2D6 | Pharmacogenomic for propafenone | Tier 2
|
|
| Chronic heart failure, left ventricular dysfunction following myocardial infarction, hypertension | CYP2D6 | Pharmacogenomic for carvedilol | Tier 2
|
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| Hypertension, angina pectoris, heart failure | CYP2D6 | Pharmacogenomic for metoprolol | Tier 2
|
|
| Venous thrombosis, pulmonary embolism, thromboembolic complications associated with atrial fibrillation and/or cardiac valve replacement, myocardial infarction | CYP2C9, VKORC1 | Pharmacogenomic for warfarin dose | Tier 2
|
|
| Non–small cell lung cancer | KRAS mutations [except c38G>A] | Predictive; prognostic; for anti-EGFR therapy | Tier 2
|
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| Hypereosinophilic syndrome and/or chronic eosinophilic leukemia | FIP1L1-PDGFRA kinase | Pharmacogenomic for imatinib, dose | Tier 2
|
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| Philadelphia chromosome positive chronic myeloid leukemia | UGT1A1*28 homozygotes | Pharmacogenomic for nilotinib | Tier 2
|
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| Chronic myelogenous leukemia | Philadelphia chromosome | Pharmacogenomic for busulfan | Tier 2
|
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| Cystic fibrosis (CF) | CFTR mutation analysis | Pharmacogenomic for ivacaftor | Tier 1
|
|
| Lipid disorders, cholesterol, dyslipidemia | Family history of cardiovascular disease before age 50 years in male relatives and age 60 years in female relatives | Risk factor (for coronary heart disease) to inform cholesterol screening | Tier 1
|
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| Familial hypercholesterolemia (FH) | DNA testing and LDL-C concentration measurement | Cascade testing of relatives of people diagnosed with FH | Tier 1
|
|
| Non-small cell lung cancer | ALK gene rearrangement | Pharmacogenomic for crizotinib | Tier 1
|
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| Locally advanced or metastatic non-small-cell lung cancer | EGFR (exon 19 deletions and exon 21 (L858R) substitution mutations) | Pharmacogenomic for erlotinib | Tier 1
|
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| Metastatic non-small-cell lung cancer | EGFR (exon 19 deletions and exon 21 (L858R) substitution mutations) | Pharmacogenomic for afatinib | Tier 1
|
|
| Transfusion-dependent anemia due to low-or intermediate-1-risk myelodysplastic syndromes associated with a deletion 5q | Chromosome 5q deletion | Pharmacogenomic for lenalidomide | Tier 1
|
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| Myelodysplastic/myeloproliferative diseases | PDGFRB | Pharmacogenomic for imatinib | Tier 1
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| Chronic myeloid leukemia | Philadelphia chromosome | Pharmacogenomic for nilotinib; diagnostic | Tier 1
|
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| Chronic myelogenous leukemia | Philadelphia chromosome | Pharmacogenomic for bosutinib; diagnostic | Tier 1
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| Chronic myeloid leukemia, acute lymphoblastic leukemia | Philadelphia chromosome | Pharmacogenomic for imatinib; diagnostic | Tier 1
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| Chronic myeloid leukemia, acute lymphoblastic leukemia | Philadelphia chromosome, T315I mutation | Pharmacogenomic for dasatinib; diagnostic | Tier 1
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- Page last reviewed:Mar 1, 2018
- Page last updated:Dec 20, 2018
- Content source: