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