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Tests Table

Biohellenika - Tests Table

Tests Table

Offered Tests Table

GENETIC FACTORS FOR THROMBOPHILIA

Molecurar test of the genes: F5 (Factor V Leiden) (1691G>A) & 4044A>G)

F2 (Factor II) or prothrombin (G20210A)

MTHFR (C677T)

GENETIC FACTORS FOR CARDIOVASCULAR DISEASES

Molecular testing of 13 genes for 17 mutations:

  1. F5 (Factor V-Leiden) (2 mutations)
  2. F2 (Factor II) - prothrombin (1 mutation)
  3. MTHFR (2 mutations)
  4. F13b (Factor XIII) (1 mutation)
  5. FGB (1 mutation)
  6. ITGB3 ή GpIIIa ή HPA1 (1 mutation)
  7. PAI-1 (1 mutation)
  8. ACE (1 mutation)
  9. Apo B (1 mutation)
  10. ApoΕ (Ε2/Ε3/Ε4) haplotype study
  11. eNOS (2 mutations)
  12. LTA (1 mutation)
  13. PROCR (EPCR) (2 mutations)

GENETIC FACTORS FOR ATHEROSCLEROSIS

Molecular testing of 7 genes for 10 mutations:

  1. Apo B (1 mutation)
  2. ApoΕ (Ε2/Ε3/Ε4) haplotype study
  3. FGB (1 mutation)
  4. eNOS (2 mutations)
  5. ITGB3 ή GpIIIa ή HPA1 (1 mutation)
  6. ACE (1 mutation)
  7. LTA (1 mutation)

GENETIC FACTORS FOR THROMBOEMBOLISM

Molecular testing of 6 genes for 7 mutations:

  1. F5 (Factor V-Leiden) (2 mutations)
  2. F2 (Factor II) - prothrombin (1 mutation)
  3. MTHFR (2 mutations)
  4. F13b (Factor XIII) (1 mutation)
  5. PAI-1 (1 mutation)
  6. PROCR (EPCR) (2 mutations)

GENETIC FACTORS FOR ALZHEIMER DISEASE

Molecular testing of ApoE gene (Ε2/Ε3/Ε4)

IMMUNOGENETIC FACTORS FOR DISEASE PREDISPOSITION

Molecular testing of the allele of HLA Β-27

PHARMACOGENOMICS – PERSONALIZED TREATMENT

1.Molecular testing for the detection of genotypes in the DPD, associated with the patient’s response to treatment with 5-FU (5-fluorouracil): a) Allele 2 (IVS1G>A) – 1 polymorphism and b) Alleles *3, *4, *5A, *7, *8, *9, *10, *12, *13, Μ166V, R886Η, D949V.

2.Molecular testing for the detection of genotypes in the UDP gene, associated with the patient’s response to treatment with Irinotecan (or Camptosar).

3.Molecular testing for the detection of the alleles 1, 2, 3A, 3C in TMPT gene, associated with the patient’s response to treatment with sulfapyridine.

4.Molecular testing for the detection of the alleles *3, *4, *5, *6, *7, *8, *9, *14, *19 and *ΧΝ, associated with CYP2D6 gene, which metabolizes 25% of the prescribed drugs.

5.Molecular testing for the detection of 34 alleles in CYP2D6/CYP2C19 genes, that metabolize 40% of the prescribed drugs.

6.Molecular testing for the detection of the alleles *2, *2B, *3, *4, *5, *6, *7, *8, *9, *10, *11, associated with CYP2C19 gene, which metabolizes 15% of the prescribed drugs.

7.a) Molecular testing for the detection and identification of VCORC-1 (1639G>A) - 1 polymorphismand CYP2C9-2*(430C>T), CYP2C9-3*(1075A>C) – 2 polymorphisms, that are associated with the response to anti-coagulation treatment Warfarin and b) Molecular testing for the detection of the alleles *2, *3, *4, *5, *6, *11, associated with CYP2C9 gene, which metabolizes 5-10% of the prescribed drugs.

VIRUS MOLECULAR DETECTION

1. Qualitative detection of cytomegalovirus (CMV)

2. Quantitative detection of cytomegalovirus (CMV)

3. Qualitative detection of Epstein Barr Virus (EBV)

4. Detection of (Varicella Zoster virus -VZV)

5. Detection and typing of Herpes Simplex Virus 1 & 2 (HSV), using Real Time PCR

6. Qualitative and quantitative detection of Hepatitis B Virus (HBV) and Hepatitis C Virus (HCV), using Real Time PCR in serum

7. Detection and genotyping of 24 types of Human Papilloma Virus (HPV), using Microarrays.

MOLECULAR DETECTION OF BACTERIA, PARASITES AND GENITAL INFECTIONS

1. DNA detection of Mycoplasma hominis

2. DNA detection of Chlamydia trachomatis

3. DNA detection of Ureoplasma pavum/urealyticum

4. DNA detection of Group Β Streptococcus

5. DNA detection of Toxoplasma gondii

6. DNA detection of Mycoplasma genitalium

7. DNA detection of Neisseria gonorrhoeae

Molecular Analysis of Hereditary Diseases

  1. 1. Haemochromatosis (HH)

Molecular analysis of genes: HFE (12 mutations)

TFR2 (4 mutations)

FPN1 (2 mutations)

Also the HAMP gene can be tested and the whole sequence of HFE gene.

  1. 2. Cystic Fibrosis (CF)
  2. 3. Mediterranean Fever (FMF)
  • Molecular analysis of CFTR gene (36 mutations) and R1158X & E822X mutations with PCR in total blood.
  • Analysis of 200 mutations of CFTR gene.
  • Also the whole sequence of CFTR can be tested.

    • Molecular analysis of MEFV gene (12 mutations)

    4. B-Thalasemia

  • Molecular analysis of the b-globulin gene (22 mutations)
  • Whole sequence of the gene.

    • 5. A-Thalasemia (Hb-H)

  • Molecular analysis of a-globulin gene (21 mutations)
  • Molecular analysis of HBA1 and ΗΒΑ2 genes

    • Examples of additional single- and multi-factor diseases

    1. Angiotensin 1, AGT
    2. Hemorrhagic Telangiectasia Syndrome, I and II
    3. Hemophilia A and B
    4. Acatalasemia
    5. Amyotrophic lateral sclerosis
    6. alpha-1-antitrypsin deficiency
    7. Fructose intolerance
    8. Adenosine deaminase deficiency)
    9. 17-beta-hydroxysteroid-dehydrogenase 3 deficiency)
    10. 21-hydroxylase deficiency
    11. Ectodermal dysplasia
    12. Apolipoprotein B
    13. Apolipoprotein E
    14. Glycogen storage disease
    15. Αrrhythmogenic right ventricular dysplasia, familial
    16. Alzheimer disease
    17. Charcot-Marie-Tooth disease
    18. Fabry disease
    19. Gaucher disease
    20. Lou Gehrig disease
    21. Amyotrophic lateral sclerosis
    22. Niemann-Pick Disease
    23. Norrie disease
    24. Parkinson’ disease
    25. Pompe disease
    26. Tay Sachs disease
    27. Wilson disease
    28. Ataxia telangiectasia
    29. Achondroplasia
    30. Galactosaemia
    31. Glaucoma
    32. Dilated Cardiomyopathy
    33. Sickle cell anaemia)
    34. Systemic lupus erythematosus
    35. Cystinuria
    36. Cystinosis
    37. Lactose intolerance
    38. Xeroderma pigmentosum
    39. Retinitis Pigmentosa
    40. Metachromatic leucodystrophy
    41. Muscular dystrophy Duchenne/Becker
    42. Myotonia congenita
    43. Myotonic dystrophy
    44. Neurofibromatosis type 1and II
    45. Maple Syroup Urine Disease
    46. Spinal muscular atrophy
    47. Familial Mediterranean fever
    48. Familial hypercholesterolemia
    49. Τuberous sclerosis
    50. Homocystinuria
    51. Pancreatitis, hereditary
    52. Polycystic kidney disease
    53. Spinal and bulbar muscular atrophy
    54. APCR.
    55. Retinoblastoma
    56. Rheumatoid arthritis
    57. Diabetes, type I, II & MODY
    58. Severe combined immunodeficiency
    59. Angelman syndrome
    60. Bloom syndrome
    61. Gorlin-Goltz syndrome or Nevoid basal cell carcinoma syndrome = NBCCS or Basal Cell nevus Syndrome BCNS
    62. Lesch – Nyhan syndrome
    63. Louis Bar syndrome
    64. Lynch syndrome
    65. Nail - patella syndrome
    66. Prader Willi syndrome
    67. Rett syndrome
    68. Rubinstein-Taybi syndrome
    69. Sanfilippo C syndrome
    70. Smith-Lemli-Opitz syndrome
    71. Usher syndrome
    72. Von Hippel-Landau Syndrome
    73. Wolfram syndrome
    74. Tyrosinemia
    75. Hyperliproteinemia
    76. Adrenal hyperplasia, congenital due to 21 hydroxylase deficiency
    77. Hypertrophic cardiomyopathy
    78. Familial hypercholesterolemia
    79. Ectodermal dysplasia, Hypohidrotic or Anhidrotic, or Christ-Siemens-Touraine Syndrome, or CST syndrome
    80. Short stature
    81. Phenylketonuria
    82. Huntingtons disease