Teste genetice

Teste genetice recomandate la nivel international & national

A. Testare genetica extinsa metabolica urmata de obtinerea unui raport de interpretare

1. Raport MTHFRsupport

• software dezvoltat de Sterling Hill, adresa de email la contact@mthfrsupport.com
• raportul este in format tabelar, ce include locatia, numele mutatiei, alela de risk, alelele gasite si interpretarea lor cu background color (rosu homozigot, galben heterozigot, verde normal)
• analiza automata a fisierelor raw data
• cost 39.90USD, cu plata prin card credit/ paypal.
• update-uri ulterioare gratuite, atata timp cat fisierul de testat ramane in contul online al utilizatorului; in prezent a ajuns la ver. 2.12
• permite obtinerea unui raport detaliat pentru fisierele raw data de 65 pagini, in format tabelar, pentru fiecare din categoriile urmatoare:
  • detoxificare hepatica faza I & faza II,
  • metabolism alcool,
  • ciclurile metilare si metionina,
  • ciclul transsulfurarii,
  • ciclul neurotransmitatorilor,
  • activitate COMT,
  • functie mitocondriala,
  • riscul de Alzheimers/Cardio/Lipid,
  • IgE,
  • IgG,
  • IgA,
  • coagulare
  • riscul de boala celiaca,
  • risc de boli tiroidiene,
  • functie oculara
  • HLA
  • alti factori imuni
  • sulfiti/sulfati/oxalati
  • metabolism fier
  • metabolism vitamina B1
  • metabolism molibden
  • oboseala musculara.
• Pentru fiecare mutatie (SNP), se precizeaza:
  • locatia in genom ( ex. rs1801133)
  • numele SNP (ex. MTHFRC677T )
  • alela de risc (ex. A sau T)
  • alelele pacientului evidentiate in proba de testat (ex. G)
  • rezultatul final:
    • -/- (normal, amandoua alelele fara mutatie, culoare verde)
    • -/+ (heterozigot, o alela mutanta prezenta, o alela normala, culoare galbena)
    • +/+ (homozigot, amandoua alelele mutante, culoare rosie)
• Raportul variant este raportul pe care il recomand.

2. Raport geneticgenie.org (gratuit)

• analiza automata a fisierelor raw data
• include 2 rapoarte de interpretare GRATUITE, insa cu un nr limitat de mutatii SNP:
  • raport metilare pentru pentru genele:  COMT, VDR, MAO A, ACAT  1-02, MTHFR , MTR, MTRR, BHMT, AHCY, CBS, SHMT1
  • raport detoxifiere pentru CYP, GST, SOD, NAT

3. Raport StrateGene

• software dezvoltat de Dr. Ben Lynch & Seeking Health Educational Institute
• cost 95USD
• raport ce include caile metabolice si variantele homo/hetero/normal pentru genele implicate
• raport foarte detaliat insa pentru un numar limitat de mutatii SNP: CORE SNPs: SLC19A1, BCO1,MTHFD1, FUT2, MTHFR, NQO1, MTRR, HFE, MAT1A, PEMT, CBS, FADS1, SOD2, SOD3, GSTP1, G6PD, PX1, NOS3, SULT1A1, MAOA, MAOB, COMT, AOC1 (DAO), NAT2, TNFalpha, LRRK2, VDR, APOE

4. Raport TrueReport

• analiza automata a fisierelor raw data
• cost 29USD
• raport detaliat pe domenii de interes:
  • APOE,
  • Autism-Related Genetics,
  • Brain Health Genetics,
  • Clotting Factors,
  • Detoxification Genetics,
  • Estrogen Metabolism Genetics,
  • Fatty Acid & Lipid Metabolism,
  • GI Health Genetics,
  • Heart Health Genetics,
  • Immune-Related Genetics,
  • Iron & Hemochromatosis-Related Genetics,
  • Methylation Genetics (MAT1A, ACAT, AHCY, BHMT, CBS, COMT, GAD1, MAOA, MTHFR, MTR, MTRR, SLC19A1),
  • Mitochondrial Genetics
  • Oxalate-Related Genes,
  • SHBG: Sex Hormone Binding Globulin,
  • Thyroid,
  • Vaccine Adverse Events,
  • Vitamin A Metabolism,
  • Vitamin D Metabolism
• update-uri ulterioare gratuite, in prezent a ajuns la ver. 2.0
• exemplu de raport de interpretare True Report

5. Raport codegen.eu

• gratuit
• arata riscurile de a dezvolta boli, pe baza prezentei mutatiilor genetice
• riscurile sunt clasificate in Good, Bad, Warning, Info
• domeniile de interes sunt Aging, Cancer. Cardiovascular, Chemdependency, Developmental, Hematological, Immune, Infection, Metabolic, Neurological, Pharmacogenomic, Psych,Renal, Reproduction, Vision
• programul are subcapitolele (la fiecare fiind descrise mutatiile in cauza, cu rs#, hetero/homozigot):
  – TOP GENOTYPES unde sunt sintetizate cele mai mari riscuri de a dezolta o boala
  – TOP ESTABLISHED NEGATIVE ASSOCIATIONS, VITAMINS AND NUTRIENTS, FITNESS

B.Kit GX Sciences, USA

• raport de interpretare inclus
• cost in functie de panelul selectat
• ofera posibilitatea efectuarii a mai multor tipuri de teste genetice, (paneluri) pe diverse profiluri: neurologic etc

C.Kit Holistic Health International – USA

• raport de interpretare inclus
• costa 495USD
• exemplu raport de interpretare

D.Kit OneOme – USA

• testare farmacogenetica PGx
• include informatii despre 27 gene si 300+ medicamente
• include raport de interpretare
• exemplu raport de interpretare

Romania

SYNLAB

• testare de ansamblu – Cariotip postnatal molecular – array CGH (750.000 mutatii SNP)
• mutatii VDR – Vitamina D3 Receptor (gena VDR) – genotipare (VDR)*
• Mutatiile genei Diaminoxidazei (DAO) – 4 variante genetice*
• Fenilcetonuria (PKU) – gena PAH – MLPA*
• mutatii detoxifiere hepatica
  • Genotipare CYP2c19(Citocrom P450 2c19)
  • Genotipare CYP2D6(Citocrom P450 2D6)
  • Genotipare Apo E4 – Apolipoproteina E
  • Gena Glutathione-S-transferazei – polimorfism (GSTT1)*
  • Gena SOD1 (superoxid dismutaza)*
  • Genotipare CYP1A2 (Citocrom P450 1A2) – secventiere*
  • Metabolizarea cafeinei – test genetic (CYP1A2-163A/C)*
  • Sindrom Gilbert – gena UGT1A1*
  • 21-Hydroxylase deficiency (CYP21A2-gene)
  • Hemocromatoza tip 1- gena HFE mutatiile C282Y, H63D, S65C – screening, RT-PCR*
  • Hemocromatoza tip 2B (HAMP) – secventiere*
• testare HLA

SYNEVO

• Apolipoproteina E –Genotipare
• Genotiparea CYP2C9 (Anticoagulante Orale)
• Genotipare CYP2C19
• Glutation S transferaza (variante genetice GST – P1, T1 si M1)
• Gena VKORC1 (Analiza Polimorfism Genetic)
• Variante Genetice Enzima Cyp2D6 (Citocrom P450)
• Sindrom Adrenogenital (Deficit 11-Beta Hidroxilaza)-Cyp11B1
• Sindrom Adrenogenital (Deficit De 21-Hidroxilaza)-Mutatii Cyp21A2
• Testare genetică DAO (RS205, RS226, RS101, RS104)
• Predispozitie genetica boala celiaca (HLA-DQ2/DQ8)

Resurse si bibliografie aditionala

GENA MTHFR, MUTATIILE C677T & A1298C SI CICLUL METILARII

1. Dr. Ben Lynch:
   • mthfr.net – blog despre mutatiile genei MTHFR de tip C677T si A1298C
   • video despre panelul metilarii – Dr Ben Lynch, Dr Jess Armine, Dr Andrew Rostenberg & Shawn Bean
   • video – MTHFR and Methylation Defects: Improving Patient Outcomes
   • video – Folate and Methylation Defects and Metabolism in 2013: Clinical Breakthroughs and Updates
   • podcast si transcript – Methylation Problems & Gene Mutations
2. Dr. James Robert – heartfixer.com, website dedicat despre functionarea normala a ciclului metilarii, dar si in prezenta diverselor combinatii de mutatii de gene MTHFR 677 & 1298 plus restul genelor implicate
3. Dr. Mark Hyman: articol Maximizing methylation the key to healthy aging
4. Dr. Suzy Cohen – articole Methylation problems, Methylation, Genes, Methylation and your Health
5. Dr. Charles Jones -blog MTHFR, Medicamente contraindicate, Nitrous-oxide
6. Dr. Jockers.com – articol Understanding methylation
7. U.S. National Library of Medicine – Genetics Home Reference – despre gena MTHFR
8. Pubmed – Molecular Biology of Methylenetetrahydrofolate Reductase (MTHFR)
9. PubMed – literatura publicata pe PubMed despre MTHFR
10. SNPedia (baza de date despre SNP-uri) – MTHFR 677, MTHFR 1298
11. Dr. Bruce Lipton – video despre interactiunea dintre Mediu – Proteine reglatoare – ADN – ARN – Proteine
12. Dr. Kendal Stewart – despre metilare
13. labtestsonline.org, descrierea mutatiilor MTHFR din punct de vedere a testarii de laborator
14. Mind Body Green: articol Methylation: Why It Matters For Your Immunity, Inflammation & More
15. MTHFR Resource Center – un website care contine multiple prezentari, documente, linkuri, resurse

TRATAMENT NUTRIGENOMIC

Mutatiile genei MTHFR si patologia neurologica 

1. Richard Van Konynenburg, Ph.D. – Sindromul de oboseala cronica, Glutathione Depletion—Methylation Cycle Block
2. MTHFR, glutation si autism, blog despre glutation – articol MTHFR and Autism
3. Despre autism si mutatiile MTHFR: articol I’M A COMPOUND, HETERO MTHFR! NOW WHAT?

Dr. Amy Yasko – tratament specializat pentru copiii cu autism

• “Genetic Bypass“, 318 pagini, e-book gratuit despre tratament personalizat nutritional in functie de genotip, pe mutatiile din harta metilarii, si care sunt caile de bypass pentru diverse combinatii de mutatii
• “Autism – Pathways to recovery“, 226 pagini, e-book gratuit despre tratament personalizat nutritional in autism bazat pe mutatiile individuale ale pacientilor cu autism
• “Feel good biochemistry” carte disponibila online gratuit, realizata de Dr. Amy Yasko si Nancy Mullan MD
• Scribd Dr. Amy Yasko – www.scribd.com/DrAmyYasko
• website-uri www.dramyyasko.com; www.knowyourgenetics.com

Nancy Mullan MD

• La inregistrarea ca abonat pe nancymullanmd.com, se primeste Ebook-ul gratuit “The methyl group: what it can do for you, plus 3 mistakes not to make with MTHFR+”, contine informatii de baza despre gene, genetica, epigenetica, metilare, sinteza acizilor nucleici, ciclurile metilarii & folatului & transsulfurarii.
• website-uri nancymullanmd.com

Informatii despre alimente si nutrienti

• http://nutritiondata.self.com/ – compara alimente in functie de continutul in diversi nutrienti
• http://foodpharmacy.com/ – software gratuit pentru Windows si Mac
• http://orthomolecular.org/
• Dietary Reference Intakes for … Folate, Vitamin B12 – Institute of Medicine (US)
• US Department National Institute of Health – despre folat

Vitamine, suplimente nutritionale – De ce acidul folic  NU este recomandat

1. Dr. Ben Lynch –
   • Folic Acid vs Folate: What is the Difference?
   • Folic Acid is Affecting You Negatively
   • Why You Should Stop Taking Folic Acid
   • MTHFR and Methylation Dysfunction in Pediatrics
   • L Methylfolate: What, Why, When, How and Side Effects
2. Seeking Health Blog – Folate – The Dangers & Differences
3. US Institute of Medicine – http://www.ncbi.nlm.nih.gov/books/NBK114318/
4. MTHFR Gene Mutation – https://www.facebook.com/groups/230824260340671/
5. Life Extension – Why So Many People Require The Metabolically Active Form of Folic Acid
6. The Healthy Home Economist – How Folic Acid is Making Us Sick
7. Health Home and Happiness – Folate vs Folic Acid...
8. Peter Smith – Could a Gene Mutation be causing your depression or bipolar
9. MTHFR Support Australia 
10. Chris Kresser – Folate vs folic acid
11. Stephanie Seneff, PhD – Folic acid and glyphosate
12. Selfhacked.com – 16 Proven Benefits of Vitamin B9 (Folate, Folic Acid) – Some Will Surprise You

SOCIETATI MEDICALE – Nutritie & Nutrigenomica

1. Australasian College of Nutritional and Environmental Medicine – ACNEM
2. Seeking Health Educational Institute – cursuri de nutrigenomica clinica – SHEI
3. International Society of Nutrigenetics & Nutrigenomics – ISNN
4. Orthomolecular Medicine
5. Societatea Romana de Diabet, Nutritie si Boli Metabolice
6. American Academy of Environmental Medicine – AAEA.

Solicitare de Consiliere nutritionala personalizata

Pentru a va programa la o consultatie nutritionala online cu primirea unui tratament nutritional personalizat, puteti lua legatura cu mine prin:

• pagina de Contact.
• e-mail la office@nutrigenomic.ro
• formularul de mai jos.

Voi raspunde personal la solicitarea dvs.

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