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Mutatii genetice, MTHFR, metilare si nutrigenomica

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Teste genetice

Laboratoare pentru teste genetice de tip SNP

International

1. Ancestry – USA

  • testeaza aprox. 700.000 mutatii SNP, inclusiv majoritatea mutatiilor de trombofilie, intolerante la gluten, lactoza, neurotransmitatori, enzime hepatice, etc.
  • se obtine un fisier raw data in format txt ce contine in format tabelar alelele gasite la fiecare SNP testat
  • nu ofera raport de interpretare, acesta se obtine folosind unul din website-urile specializate de mai jos de exemplu:
  1. geneticgenie.org (gratuit)
    • analiza automata a fisierului 23andme.com si ancestry.com in format zip
    • include 2 rapoarte de interpretare:
      • raport metilare pentru pentru genele:  COMT, VDR, MAO A, ACAT  1-02, MTHFR , MTR, MTRR, BHMT, AHCY, CBS
      • raport detoxifiere pentru CYP, GST, SOD, NAT.
  2. StrateGene
    • software dezvoltat de Dr. Ben Lynch & Seeking Health Educational Institute
    • compatibil cu fisierul raw data de la 23andme.com si ancestry.com
    • cost 45USD
    • raport ce include caile metabolice si variantele homo/hetero/normal pentru genele implicate
    • raport foarte detaliat pe genele: 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
  3. MTHFRsupport.com
    • software dezvoltat de Sterling Hill – raport de 65 pagini
    • raportul este in format tabelar, ce include locatia, numele mutatiei, alela ded risk, alelele gasite si interpretarea lor cu background color (rosu homozigot, galben heterozigot, verde normal)
    • analiza automata a fisierului 23andme.com si ancestry.com in format zip
    • cost 30USD
    • raport detaliat pe domenii de interes: detoxifiere hepativa faza I si II, ciclul metilarii, activitate COMT, neurotransmitatori, metabolism alcool, ciclu trans-sulfurare, tulburari de coagulare, intoleranta la gluten, functie mitocondriala, sanatate vizuala
    • update-uri ulterioare gratuite, in prezent a ajuns la ver. 2.9
    • emailul pentru a lua legatura cu autoarea Sterling Hill – contact@mthfrsupport.com
    • exemplu de raport de interpretare folosind fisier 23andme
    • exemplu de raport de interpretare folosind fisier ancestry
  4. TrueReport
    • analiza automata a fisierului 23andme.com si ancestry.com
    • 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
    • emailul pentru a lua legatura cu autorul Michael McEvoy pe pagina true.report/contact
    • exemplu de raport de interpretare True Report
  5. 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

2. DANTELABS – ITALIA

  • realizeaza secventierea intregului genom 30X 
  • separat sunt disponibile rapoartele de interpretare
  • ofera posibilitatea efectuarii a mai multor tipuri de teste genetice, (paneluri) pe diverse profiluri: neurologic, farmacogenetic, nutrigenomic, boli rare, etc.
  • folosesc o platforma de secventiere moderna
  • preturile variaza de la 599 euro la 999 euro

3.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

4.Holistic Health International – USA

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

5.OneOme – USA

  • testare farmacogenetica PGx
  • include 22 gene si 350 medicamente
  • pretul este de $349
  • include raport de interpretare
  • exemplu raport de interpretare

Romania

SYNLAB

  • testare de ansamblu – Cariotip postnatal molecular – array CGH (750.000 mutatii SNP) – 4200 RON
  • mutatii VDR – Vitamina D3 Receptor (gena VDR) – genotipare (VDR)* – 600 RON
  • Mutatiile genei Diaminoxidazei (DAO) – 4 variante genetice* -1700 RON
  • Fenilcetonuria (PKU) – gena PAH – MLPA* 1800 RON
  • mutatii detoxifiere hepatica
    • Genotipare CYP2c19(Citocrom P450 2c19) – 1500 RON
    • Genotipare CYP2D6(Citocrom P450 2D6) – 2250 RON
    • Genotipare Apo E4 – Apolipoproteina E – 500 RON
    • Gena Glutathione-S-transferazei – polimorfism (GSTT1)* – 1400 RON
    • Gena SOD1 (superoxid dismutaza)* – 2300 RON
    • Genotipare CYP1A2 (Citocrom P450 1A2) – secventiere* – 1000 RON
    • Metabolizarea cafeinei – test genetic (CYP1A2-163A/C)* – 190 RON
    • Sindrom Gilbert – gena UGT1A1* – 570 RON
    • 21-Hydroxylase deficiency (CYP21A2-gene) – 1900 RON
    • Hemocromatoza tip 1- gena HFE mutatiile C282Y, H63D, S65C – screening, RT-PCR* – 390RON
    • Hemocromatoza tip 2B (HAMP) – secventiere* – 1450 RON
  • testare HLA
    • HLA A Alele (HLAM)* – 300 RON
    • HLA B Alele (HLBM)* – 300 RON
    • HLA B-27 (HB27M)* – 200 RON
    • HLA Cw Alele (HLCM)* – 300 RON
    • HLA DQ Alele (HLDQM)* – 300 RON
    • HLA DQ2 / HLA DQ8 – suspiciune de boala celiaca (PCR)* – 400 RON
    • HLA DR Alele (HLDRM)* – 300 RON
    • HLA tipare – HLA A, HLA B, HLA C, HLA DR, HLA DQ (BUCHLA) – 1200 RON

MEDLIFE

  • Genotipare ApoE  – 265 RON
  • Genotipare CYP2D6 – 270 RON

SYNEVO

  • Apolipoproteina E –Genotipare 473 RON
  • Genotiparea CYP2C9 (Anticoagulante Orale) – 214 RON
  • Genotipare CYP2C19 – 441 RON
  • Glutation S transferaza (variante genetice GST – P1, T1 si M1) – 697 RON
  • Gena VKORC1 (Analiza Polimorfism Genetic) – 666 RON
  • Variante Genetice Enzima Cyp2D6 (Citocrom P450) – 1640 RON
  • Sindrom Adrenogenital (Deficit 11-Beta Hidroxilaza)-Cyp11B1 – 3180 RON
  • Sindrom Adrenogenital (Deficit De 21-Hidroxilaza)-Mutatii Cyp21A2 – 3895 RON
  • Testare genetică DAO (RS205, RS226, RS101, RS104) – 1095 RON
  • Predispozitie genetica boala celiaca (HLA-DQ2/DQ8) – 605 RON.

Advanced Nutrigenomics, Genetx:

  • testare prin secventiere (cea mai sigura metoda de diagnostic)
  • testare farmacogenetica PGx:
    • include 17 mutatii genetice
    • pretul este de 700 euro
    • exemplu raport aici 
  • testare nutrigenetica NGx:
    • include raport nutrigenetic si indicatii alimentare
    • pretul este de 700 euro
    • exemplu raport aici

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

  1. http://nutritiondata.self.com/ – compara alimente in functie de continutul in diversi nutrienti
  2. http://foodpharmacy.com/ – software gratuit pentru Windows si Mac
  3. http://orthomolecular.org/
  4. Dietary Reference Intakes for … Folate, Vitamin B12 – Institute of Medicine (US)
  5. 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 Consultanta personalizata

Pentru a va programa la o consultatie de sfat genetic in mutatiile MTHFR (si alte mutatii) cu primirea unui tratament nutritional personalizat bazat pe mutatiile genetice metabolice individuale, puteti lua legatura cu mine prin formularul de mai jos sau prin pagina de Contact.

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    Sunt Dr. Iosefina Speers, medic specialist medicina de laborator si nutritionist si scriu pe acest blog despre mutatiile genei MTHFR si metilare, genetica si diverse mutatii metabolice cu tratament nutrigenomic.
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