All-in-One DNA Test
Complex Diseases
- Combination of genetic and environmental factors
1. Cardiovascular Diseases:
• Abdominal aortic aneurysm
• Angina pectoris
• Arterial hypertension
• Atrial fibrillation
• Coronary heart disease
• Deep vein thrombosis
• Heart failure
• Intracranial aneurysm
• Myocardial infarction
• Peripheral arterial disease
2. Respiratory Diseases:
• Asthma
• Chronic Obstructive Pulmonary Disease (COPD)
• Allergic rhinitis
• Nasal polyps
3. Autoimmune Diseases:
• Addison's disease
• Graves' disease
• Juvenile idiopathic arthritis
• Multiple sclerosis
• Primary Biliary Cirrhosis
• Rheumatoid arthritis
• Systemic lupus erythematosus
• Type 1 diabetes mellitus
• Vitiligo
4. Neurological Diseases:
• Alzheimer's disease
• Amyotrophic lateral sclerosis (ALS)
• Bipolar disorder
• Depression
• Migraine
• Multiple sclerosis
• Narcolepsy
• Parkinson's disease
• Schizophrenia
• Restless legs syndrome
• Sensorineural hearing loss
5. Gastrointestinal Diseases:
• Abdominal hernia
• Barrett's esophagus
• Chronic kidney disease
• Crohn's disease
• Diaphragmatic hernia
• Diverticulosis/Diverticulitis
• Gallstones
• Gastroesophageal reflux disease (GERD)
• Haemorrhoidal disease
• Non-alcoholic fatty liver disease (NAFLD)
• Ulcerative colitis
• Urolithiasis
6. Cancers:
• Basal cell carcinoma
• Chronic lymphocytic leukemia
• Colorectal cancer
• Cutaneous malignant melanoma
• Glioblastoma
• Glioma
• Lung cancer
• Multiple myeloma
• Myeloproliferative neoplasms
• Neuroblastoma
• Non-medullary thyroid cancer
• Oral cavity and oropharyngeal cancer
• Pancreatic cancer
• Prostate cancer
• Squamous cell carcinoma of the skin
• Testicular germ cell cancer
7. Endocrine and Metabolic Disorders:
• Diabetes mellitus type 2
• Hyperlipidemia
• Hypothyroidism
• Non-toxic multinodular goiter
• Osteoporosis
• Non-alcoholic fatty liver disease (NAFLD)
8. Musculoskeletal Disorders:
• Carpal tunnel syndrome
• Dupuytren's disease
• Fasciitis
• General osteoarthritis
• Osteoarthritis of the hip
• Osteoarthritis of the knee
• Gout
• Juvenile idiopathic arthritis
9. Dermatological Diseases:
• Atopic dermatitis
• Psoriasis
• Vitiligo
• Cutaneous malignant melanoma
• Basal cell carcinoma
• Squamous cell carcinoma of the skin
10. Ocular Diseases:
• Age-related macular degeneration
• Cataracts
• Keratoconus
• Macular telangiectasia type 2
• Open angle glaucoma
11. Urological Diseases:
• Benign prostatic hyperplasia
• Prostate cancer
• Urolithiasis
12. Other Diseases/Conditions:
• Chronic kidney disease
• Headaches
• Restless legs syndrome
• Testicular germ cell cancer
Inherited Diseases
- Mutation in a single gene
- Present or absent variant
- Possibility of being a carrier
1. Genetic Syndromes and Inherited Disorders:
• Chromosomal and Genetic Syndromes:
o Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN)
o Bloom syndrome
o Cowden syndrome
o Ehlers-Danlos Syndrome (EDS)
o Familial adenomatous polyposis
o Li-Fraumeni Syndrome
o Lynch syndrome
o Neurofibromatosis type I
o Peters plus syndrome
• Metabolic Disorders:
o Alpha-1 Antitrypsin Deficiency
o Biotinidase deficiency
o cblA Type Methylmalonic aciduria
o cblB Type Methylmalonic aciduria
o Classical homocystinuria due to CBS deficiency
o Congenital disorder of glycosylation type 1a (PMM2-CDG)
o Dihydrolipoamide Dehydrogenase Deficiency
o Dubin-Johnson syndrome
o Familial Hypercholesterolemia
o Familial hyperinsulinism (ABCC8-related)
o Fanconi Anemia (FANCC-related)
o Gaucher disease
o Glutaric Acidemia type 1
o Glutaric Acidemia type 2
o Glycogen storage disease type 1A (Von Gierke Disease)
o Glycogen storage disease type 1B
o Glycogen storage disease type 3
o Glycogen storage disease type 5
o Glycogenosis type 2 or Pompe disease
o Hereditary fructose intolerance
o Homocystinuria due to MTHFR deficiency
o Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
o Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
o Mucolipidosis IV
o Mucolipidosis type II
o Niemann-Pick disease type A
o Phenylketonuria
o Primary hyperoxaluria type 1 (PH1)
o Primary hyperoxaluria type 2 (PH2)
o Pyruvate kinase deficiency
o Refsum disease
o Salla Disease
o Short chain acyl-CoA dehydrogenase deficiency (SCADD)
o Sjögren-Larsson syndrome
o Tay-Sachs disease
o Tyrosinemia type I
o Wilson disease
o Zellweger syndrome
• Blood Disorders:
o Beta Thalassemia
o Hemophilia A
o von Willebrand disease
2. Neurological and Neurodegenerative Disorders:
• Neurodevelopmental Disorders:
o ARSACS (Autosomal recessive spastic ataxia of Charlevoix-Saguenay)
o Canavan Disease
o Congenital muscular alpha-dystroglycanopathy and Walker-Warburg syndrome
o Congenital myasthenic syndrome
o Familial dysautonomia (Riley-Day syndrome)
o Leigh Syndrome, French-Canadian type (LSFC)
o Leukoencephalopathy with vanishing white matter
o Neuronal Ceroid-Lipofuscinoses type 1 (associated to PPT1)
o Neuronal Ceroid-Lipofuscinoses type 3 (associated to CLN3)
o Neuronal Ceroid-Lipofuscinoses type 5 (associated to CLN5)
o Neuronal Ceroid-Lipofuscinoses type 6 (associated to CLN6)
o Neuronal Ceroid-Lipofuscinoses type 7 (associated to MFSD8)
o Pontocerebellar hypoplasia
• Muscle and Movement Disorders:
o Congenital stationary night blindness 1C
o Hypokalemic Periodic Paralysis
o Limb-girdle muscular dystrophy
3. Cardiovascular and Vascular Diseases:
• Cardiovascular Disorders:
o Brugada Syndrome
o Dilated Cardiomyopathy 1A
o Familial Hypertrophic Cardiomyopathy (HCM)
o Familial Transthyretin Amyloidosis
o Malignant Hyperthermia
4. Endocrine and Metabolic Diseases:
• Metabolic Bone Diseases:
o Hypophosphatasia
o GRACILE syndrome
o Maple syrup urine disease type 1B
o Very long chain acyl-CoA dehydrogenase deficiency (VLCADD)
5. Sensory Disorders:
• Visual Disorders:
o Complete achromatopsia (type 2) and Incomplete achromatopsia
o Retinitis pigmentosa
o Type 1 Oculocutaneous albinism (tyrosinase negative)
o Type 2 oculocutaneous albinism (tyrosinase positive)
• Hearing Disorders:
o Non-syndromic mitochondrial hearing loss
o Nonsyndromic Hearing Loss and Deafness, DFNB1
o Usher syndrome
6. Cystic and Polycystic Diseases:
• Cystic and Polycystic Conditions:
o Autosomal recessive polycystic kidney disease
o Birt-Hogg-Dube syndrome
o Cystic fibrosis
o Cystinosis
7. Skin Disorders:
• Dermatological Conditions:
o Junctional Epidermolysis Bullosa
o Rhizomelic Chondrodysplasia Punctata Type 1
8. Other Specific Disorders:
• Porphyrias:
o Acute intermittent porphyria
• Epileptic Disorders:
o Pyridoxine-dependent epilepsy
• Specific Syndromes:
o Familial advanced sleep phase syndrome (FASPS)
o Multiple endocrine neoplasia 2B
Pharmacological Compatibility
- Entry into personalized medicine ``one size doesn’t fit all``
- How our body reacts to different drugs
- Report on dosage, efficacy and adverse reactions
1. Dosage Information:
• Analgesics/Anti-inflammatory:
o Celecoxib
o Ibuprofen
• Anticoagulants:
o Clopidogrel
o Warfarin
o Acenocoumarol, Fenprocoumon
o Tacrolimus
• Anticonvulsants:
o Phenytoin
o Brivaracetam
o Carbamazepine
o Clobazam
o Valproic Acid
• Antidepressants:
o Amitriptyline
o Citalopram
o Clomipramine
o Desipramine
o Doxepin
o Escitalopram
o Fluoxetine
o Fluvoxamine
o Imipramine
o Nortriptyline
o Paroxetine
o Trimipramine
o Venlafaxine
o Vortioxetine
• Antipsychotics:
o Aripiprazole
o Brexpiprazole
o Haloperidol
o Iloperidone
o Olanzapine
o Pimozide
o Quetiapine
o Risperidone
o Zuclopenthixol
• Anxiolytics/Sedatives:
o Diazepam
• Beta Blockers:
o Metoprolol
• Cholesterol-lowering Agents (Statins):
o Atorvastatin
o Fluvastatin
o Lovastatin
o Pitavastatin
o Pravastatin
o Rosuvastatin
o Simvastatin
o Statins (Dosage and risk of myopathy)
• Gastrointestinal Agents (Proton Pump Inhibitors):
o Lansoprazole, Dexlansoprazole
o Omeprazole
o Pantoprazole
• Immunosuppressants:
o Methotrexate (in rheumatoid arthritis)
o Thioguanine, Azathioprine, Mercaptopurine
• Lipid-Lowering Agents:
o Simvastatin
• Miscellaneous:
o Amifampridine
o Atomoxetine
o Codeine
o Flecainide
o Folic acid
o Tramadol
o Voriconazole
2. Adverse Effects:
• Antibiotics:
o Aminoglycoside antibiotics
o Floxacillin
• Antidepressants:
o Amitriptyline
o Citalopram
o Clomipramine
o Desipramine
o Doxepin
o Escitalopram
o Fluoxetine
o Fluvoxamine
o Imipramine
o Nortriptyline
o Paroxetine
o Sertraline
o Trimipramine
o Venlafaxine
o Vortioxetine
• Anticoagulants:
o Warfarin
o Acenocoumarol, Fenprocoumon
• Antipsychotics:
o Olanzapine
o Aripiprazole
• Antiretrovirals:
o Efavirenz
o Atazanavir
o Abacavir
• Antineoplastics:
o Docetaxel
o Methotrexate
o Irinotecan
• Anti-epileptics:
o Valproic Acid
o Phenytoin
o Clobazam
• Miscellaneous:
o G6PD Deficiency and Adverse Drug Reactions
o Isoniazid
o Methotrexate
o Inhalation anesthetics and succinylcholine
o Peginterferons alfa-2a -2b and ribavirin
o Lumacaftor + Ivacaftor (Efficacy)
o Lumacaftor + Ivacaftor (Adverse effects)
3. Efficacy Information:
• Cystic Fibrosis Treatment:
o Ivacaftor (Efficacy)
o Lumacaftor + Ivacaftor (Efficacy)
• Analgesics/Anti-inflammatory:
o Celecoxib
o Ibuprofen
• Anticoagulants:
o Clopidogrel
• Antipsychotics:
o Olanzapine (Efficacy)
o Aripiprazole
• Anxiolytics/Sedatives:
o Diazepam
• Antiretrovirals:
o Efavirenz (Efficacy)
• Cholesterol-lowering Agents (Statins):
o Atorvastatin
o Fluvastatin
o Lovastatin
o Pitavastatin
o Pravastatin
o Rosuvastatin
• Immunosuppressants:
o Methotrexate (in rheumatoid arthritis)
o Thioguanine, Azathioprine, Mercaptopurine
• Lipid-Lowering Agents:
o Statins (Dosage and risk of myopathy)
o Simvastatin
• Miscellaneous:
o Amifampridine
o Atomoxetine
o Codeine
o Flecainide
o Tramadol
o Voriconazole
Personal Traits
- Physical and well-being traits are caused by a combination of genetic factors, environmental factors and individual lifestyle
1. Physical Appearance and Traits:
• Hair:
o Hair color
o Hair texture
o Male baldness
o Probability of having red hair
• Skin:
o Acne vulgaris
o Skin melanin levels
o Facial aging
o Eye clarity
• Body Structure:
o Height
o Nasion prominence
• Facial and Eye Features:
o Pigmented rings on the iris
• Handedness:
o Left-handedness (left lateral)
2. Behavioral Traits and Cognitive Abilities:
• Behavioral:
o Alcohol dependence after prolonged consumption
o Nicotine dependence after prolonged consumption
o Neuroticisms
o Risk tendency
• Cognitive:
o Cognitive ability
o Mental agility
3. Metabolic and Physiological Traits:
• Metabolism:
o Basal metabolic rate
o Metabolizer profile CYP2C19
o Metabolizer profile CYP2C9
o Metabolizer profile CYP2D6
o Metabolizer profile CYP3A5
o Heat production in response to cold
• Circadian Rhythm:
o Morning circadian rhythm (Morning person)
o Sleep duration
o Insomnia
• Hormonal:
o Sex hormone regulation (SHBG)
o Thyroid function (TSH levels)
o PSA (Prostate Specific Antigen) Levels
4. Sensory Perception:
• Smell:
o Asparagus odor detection
o Smell
• Taste:
o Asparagus odor detection
• Other Sensory Responses:
o Photic sneeze reflex
5. Genetic and Epigenetic Markers:
• Genetic Variants:
o Gene COMT
o Gene MTHFR
o Gene MTR
o Gene MTRR
• Epigenetic:
o Epigenetic aging
• Immunity and Blood Traits:
o Blood Group ABO/Rh
o CCR5Delta32 and susceptibility to HIV infection
o Duffy Antigen, malaria resistant
o HLA-B27 antigen
o C-reactive protein levels
6. Health and Disease Susceptibility:
• Disease Risk:
o Blood coagulation, factor V Leiden and 20210G-A
o QT Intervals
o Permanent tooth eruption
o Dental caries and periodontitis
o Mouth ulcers
o Probability of snoring
• General Health Indicators:
o Birth weight
o Persistence of fetal hemoglobin
o Secretor status and ABH antigens (FUT2 gene)
7. Unique or Rare Traits:
• Unique Traits:
o Ear lobe type
o Earwax type / Armpit odor
o Asparagus odor detection
o Photic sneeze reflex
Wellness
- Items related to metabolization of macronutrients, vitamin synthesis capacity and muscle regeneration capacity after exercise
- How to adapt lifestyle and diet
1. Nutrition and Metabolism:
• Vitamin and Nutrient Levels:
o Levels of vitamin A (beta carotene)
o Vitamin B12 levels
o Vitamin C levels
o Vitamin D levels
o Vitamin E levels
o Long-chain omega fatty acids levels
o Glycated hemoglobin levels
• Taste and Food Preferences:
o Bitter taste perception
o Preference for sweets
• Food Intolerances:
o Lactose intolerance
o Histamine intolerance
o Celiac disease predisposition
o Genetic predisposition to peanut allergy
• Metabolism and Body Composition:
o Body mass index
o Blood glucose
o Prediction of visceral adipose tissue
2. Cardiovascular Health:
• Blood Pressure:
o Systolic blood pressure levels
o Diastolic blood pressure levels
• Cholesterol Levels:
o HDL cholesterol levels
o LDL cholesterol levels
• Blood Antioxidants and Circulation:
o Antioxidant capacity
o Intraocular pressure
3. Exercise and Physical Performance:
• Muscle and Tendon Health:
o Exercise-induced muscle damage (initial phase)
o Exercise-induced muscle damage (second phase)
o Exercise-induced muscle damage (regeneration capacity)
o Muscle endurance
o Tendinopathies in lower extremities (legs)
o Tendinopathies in upper extremities (arms)
o Myoadenylate deaminase (AMPD1 gene)
• Caffeine and Physical Performance:
o Caffeine and sports performance
o Caffeine dependence after prolonged consumption
o Caffeine and anxiety
• Respiratory Health:
o Lung function (exhaled air volume)
4. Bone and Joint Health:
• Bone Health:
o Bone mineral density
5. Behavioral and Psychological:
• Behavioral Predispositions:
o Food intake control
o Farmer-hunter profile
o Caffeine dependence after prolonged consumption
Ancestry
Ethnic and Geographical Origins (53 ethnic groups)
Paternal haplogroup
Maternal haplogroup
Percentage of Neanderthal DNA
How ancestry is distributed in different populations and ethnicities
Connect
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