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 polymorphism and 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. Huntington's disease