HLBS-PopOmics - Heart, Lung, Blood, and Sleep Disorders Knowledge Base in Population Genomics - Tier Table Database|Search|PHGKB

Tier Table Database|Search|PHGKB

HLBS-PopOmics

- Heart, Lung, Blood, and Sleep Disorders Knowledge Base in Population Genomics -

Query Trace: All HLBS[orginal query]

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
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
Hereditary hemochromatosis	HFE	Population screening	Tier 3
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
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
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
Hypereosinophilic syndrome and/or chronic eosinophilic leukemia	FIP1L1-PDGFRA kinase	Pharmacogenomic for imatinib, dose	Tier 2
Philadelphia chromosome positive chronic myeloid leukemia	UGT1A1*28 homozygotes	Pharmacogenomic for nilotinib	Tier 2
Chronic myelogenous leukemia	Philadelphia chromosome	Pharmacogenomic for busulfan	Tier 2
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
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
Locally advanced or metastatic non-small-cell lung cancer	EGFR (exon 19 deletions and exon 21 (L858R) substitution mutations)	Pharmacogenomic for erlotinib	Tier 1
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
Myelodysplastic/myeloproliferative diseases	PDGFRB	Pharmacogenomic for imatinib	Tier 1
Chronic myeloid leukemia	Philadelphia chromosome	Pharmacogenomic for nilotinib; diagnostic	Tier 1
Chronic myelogenous leukemia	Philadelphia chromosome	Pharmacogenomic for bosutinib; diagnostic	Tier 1
Chronic myeloid leukemia, acute lymphoblastic leukemia	Philadelphia chromosome	Pharmacogenomic for imatinib; diagnostic	Tier 1
Chronic myeloid leukemia, acute lymphoblastic leukemia	Philadelphia chromosome, T315I mutation	Pharmacogenomic for dasatinib; diagnostic	Tier 1