VISTA CARRIER SKRÍNING

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VISTA - carrier skríning pre páry

VISTA – carrier skríning pre páry, ktoré plánujú mať dieťa. 
Najrozsiahlejšie pokrytie všetkých druhov vrodených chorôb na trhu. Mnoho ľudí nevie, že sú nosičmi dedičných genetických ochorení až kým sa im nenarodí dieťa s genetickou poruchou. Vista™ Carrier Screening deteguje 9200 mutácií v 547 génoch, pre 626 autozomálne-recesívnych a X-linked genetických ochorení. Zahŕňa napríklad tieto ochorenia: Duchenne Muscular Dystrophy – najčastejšia forma muskulárnej sydtrofie u detí, Wilson disease – celosvetovo 1 z 30,000 ľudí trpí Wilsonovou chorobou, Cystic fibrosis – jedna z potencionálne smrteľných vrodených chorôb v Kaukazkej rase,Spinal Muscular Atrophy – 1 z 50 ľudí je nosičom tohto ochorenia, Glycogen Storage Disease.
 
Zoznam všetkých testovaných ochorení, génov a konkrétnych mutácii  – možný výber z dvoch variant:
 

1) Variants of group A

  1. Disease: Phenylketonuria Gene:PAH NM ID:NM_000277.1 NO. of Variants:200
  2. Disease: BH4-deficient hyperphenylalaninemia Gene:PTS NM ID:NM_000317.2 NO. of Variants:18
  3. Disease: Tyrosinemia Type I Gene:FAH NM ID:NM_000137.2 NO. of Variants:31
  4. Disease: Maple Syrup Urine Disease Type 1A Gene:BCKDHA NM ID:NM_000709.3 NO. of Variants:32
  5. Disease: Maple Syrup Urine Disease Type 1B Gene:BCKDHB NM ID:NM_183050.2 NO. of Variants:29
  6. Disease: Maple Syrup Urine Disease Type 3 Gene:DLD NM ID:NM_000108.3 NO. of Variants:9
  7. Disease: MUT-Related Methylmalonic Acidemia Gene:MUT NM ID:NM_000255.3 NO. of Variants:97
  8. Disease: MMAA-Related Methylmalonic Acidemia Gene:MMAA NM ID:NM_172250.2 NO. of Variants:25
  9. Disease: Methylmalonic Aciduria and Homocystinuria CblC type Gene: MMACHC NM ID:NM_015506.2 NO. of Variants:63
  10. Disease: MMAB-Related Methylmalonic Acidemia Gene:MMAB NM ID:NM_052845.3 NO. of Variants:18
  11. Disease: Methylmalonic Aciduria and Homocystinuria CblD type Gene:MMADHC NM ID:NM_015702.2 NO. of Variants:14
  12. Disease: MCEE-Related Methylmalonic Acidemia Gene:MCEE NM ID:NM_032601.3 NO. of Variants:1
  13. Disease: Glutaric Acidemia I Gene:GCDH NM ID:NM_000159.2 NO. of Variants:75
  14. Disease: Glycogen Storage Disease Type Ia Gene:G6PC NM ID:NM_000151.3 NO. of Variants:29
  15. Disease: Glycogen Storage Disease Type Ib/Ic Gene:SLC37A4 NM ID:NM_001164278.1 NO. of Variants:12
  16. Disease: Glycogen Storage Disease Type II Gene:GAA NM ID:NM_000152.3 NO. of Variants:134
  17. Disease: Galactosemia Gene:GALT NM ID:NM_000155.3 NO. of Variants:89
  18. Disease: Mucopolysaccharidosis Type IIIA Gene:SGSH NM ID:NM_000199.3 NO. of Variants:44
  19. Disease: Mucopolysaccharidosis Type IIIB Gene:NAGLU NM ID:NM_000263.3 NO. of Variants:105
  20. Disease: Niemann-Pick Disease Type A Gene:SMPD1 NM ID:NM_000543.4 NO. of Variants:65
  21. Disease: Niemann-Pick Disease Type B Gene:SMPD1 NM ID:NM_000543.4 NO. of Variants:65
  22. Disease: Niemann-Pick Disease Type C1 Gene:NPC1 NM ID:NM_000271.4 NO. of Variants:154
  23. Disease: Niemann-Pick Disease Type C2 Gene:NPC2 NM ID:NM_006432.3 NO. of Variants:19
  24. Disease: Fabry Disease Gene:GLA NM ID:NM_000169.2 NO. of Variants:23
  25. Disease: Metachromatic Leukodystrophy due to Arylsulfatase A Gene:ARSA NM ID:NM_000487.5 NO. of Variants:84
  26. Disease: Smith-Lemli-Opitz syndrome Gene:DHCR7 NM ID:NM_001360.2 NO. of Variants:73
  27. Disease: Acyl-CoA Dehydrogenase Deficiency,MediumChain Gene:ACADM NM ID:NM_000016.4 NO. of Variants:36
  28. Disease: Acyl-CoA Dehydrogenase Deficiency,Very LongChain Gene:ACADVL NM ID:NM_000018.3 NO. of Variants:54
  29. Disease: Acyl-CoA Dehydrogenase Deficiency,ShortChain Gene:ACADS NM ID:NM_000017.2 NO. of Variants:32
  30. Disease: Aspartylglucosaminuria Gene:AGA NM ID:NM_000027.3 NO. of Variants:18
  31. Disease: Hyperornithinemia-HyperammonemiaHomocitrullinuria Syndrome Gene:SLC25A15 NM ID:NM_014252.3 NO. of Variants:17
  32. Disease: Alpha-Mannosidosis Gene:MAN2B1 NM ID:NM_000528.3 NO. of Variants:31
  33. Disease: Hereditary Fructose Intolerance Gene:ALDOB NM ID:NM_000035.3 NO. of Variants:30
  34. Disease: Hereditary Fructose Intolerance Gene:HEXA NM ID:NM_000520.4 NO. of Variants:123
  35. Disease: Duchenne Muscular Dystrophy Gene:DMD NM ID:NM_004006.2 NO. of Varianst:1169
  36. Disease: Spinal Muscular Atrophy Gene:SMN1 NM ID: NM_000344.3 NO. of Variants:1
  37. Disease: Wilson Disease Gene:ATP7B NM ID:NM_000053.3 NO. of Variants:175
  38. Disease: X-Linked Centronuclear Myopathy Gene:MTM1 NM ID:NM_000252.2 NO. of Variants:129
  39. Disease: Neuronal Ceroid-Lipofuscinoses 1 Gene:PPT1 NM ID:NM_000310.3 NO. of Variants:10
  40. Disease: Neuronal Ceroid-Lipofuscinoses 2 Gene:TPP1 NM ID:NM_000391.3 NO. of Variants:29
  41. Disease: Neuronal Ceroid-Lipofuscinoses 3 Gene:CLN3 NM ID:NM_001042432.1 NO. of Variants:23
  42. Disease: Neuronal Ceroid-Lipofuscinoses 4A Gene:CLN6 NM ID:NM_017882.2 NO. of Variants:21
  43. Disease: Neuronal Ceroid-Lipofuscinoses 5 Gene:CLN5 NM ID:NM_006493.2 NO. of Variants:15
  44. Disease: Neuronal Ceroid-Lipofuscinoses 6 Gene:CLN6 NM ID:NM_017882.2 NO. of Variants:21
  45. Disease: Neuronal Ceroid-Lipofuscinoses 7 Gene:MFSD8 NM ID:NM_152778.2 NO. of Variants:13
  46. Disease: Joubert Syndrome 2 Gene:TMEM216 NM ID:NM_001173990.2 NO. of Variants:4
  47. Disease: Joubert Syndrome 3 Gene:AHI1 NM ID:NM_017651.4 NO. of Variants:36
  48. Disease: Joubert Syndrome 5 Gene:CEP290 NM ID:NM_025114.3 NO. of Variants:67
  49. Disease: Joubert Syndrome 6 Gene:TMEM67 NM ID:NM_153704.5 NO. of Variants:42
  50. Disease: Joubert Syndrome 9 Gene:CC2D2A NM ID:NM_001080522.2 NO. of Variants:6
  51. Disease: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum Gene:SLC12A6 NM ID:NM_133647.1 NO. of Variants:11
  52. Disease: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Gene:SACS NM ID:NM_014363.4 NO. of Variants:50
  53. Disease: Familial Dysautonomia Gene:IKBKAP NM ID:NM_003640.3 NO. of Variants:4
  54. Disease: Oculocutaneous Albinism Type 1 Gene:TYR NM ID:NM_000372.4 NO. of Variants:99
  55. Disease: Oculocutaneous Albinism Type 2 Gene:OCA2 NM ID:NM_000275.2 NO. of Variants:52
  56. Disease: Oculocutaneous Albinism Type 3 Gene:TYRP1 NM ID:NM_000550.2 NO. of Variants:16
  57. Disease: Oculocutaneous Albinism Type 4 Gene:SLC45A2 NM ID:NM_016180.3 NO. of Variants:22
  58. Disease: Oculocutaneous Albinism Type 6 Gene:SLC24A5 NM ID:NM_205850.2 NO. of Variants:12
  59. Disease: Oculocutaneous Albinism Type 7 Gene:C10orf11 NM ID:NM_032024.3 NO. of Variants:2
  60. Disease: X-Linked Ocular Albinism Gene:GPR143 NM ID:NM_000273.2 NO. of Variants:42
  61. Disease: Hermansky-Pudlak Syndrome 1 Gene:HPS1 NM ID:NM_000195.3 NO. of Variants:22
  62. Disease: Hermansky-Pudlak Syndrome 3 Gene:HPS3 NM ID:NM_032383.3 NO. of Variants:4
  63. Disease: Alpha-thalassemia Gene:HBA1/HBA2 NM ID: NM_000558.3/NM_000517.4 NO. of Variants:7
  64. Disease: Beta-thalassemia Gene:HBB NM ID:NM_000518.4 NO. of Variants:106
  65. Disease: Hemophilia B Gene:F9 NM ID:NM_000133.3 NO. of Variants:272
  66. Disease: Fanconi anemia, complementation group A Gene:FANCA NM ID:NM_000135.2 NO. of Variants:130
  67. Disease: Fanconi anemia, complementation group C Gene:FANCC NM ID:NM_000136.2 NO. of Variants:18
  68. Disease: Sickle Cell Anemia Gene:HBB NM ID:NM_000518.4 NO. of Variants:4
  69. Disease: Autosomal Recessive Deafness 1A Gene:GJB2 NM ID:NM_004004.5 NO. of Variants:98
  70. Disease: Autosomal Recessive Deafness 4, with Enlarged Vestibular Aqueduct Gene:SLC26A4 NM ID:NM_000441.1 NO. of Variants:90
  71. Disease: Autosomal Recessive Deafness 23 Gene:PCDH15 NM ID:NM_033056.3 NO. of Variants:15
  72. Disease: Usher Syndrome Type 1F Gene:PCDH15 NM ID:NM_033056.3 NO. of Variants:8
  73. Disease: Usher Syndrome Type 3A Gene:CLRN1 NM ID:NM_174878.2 NO. of Variants:15
  74. Disease: Hemophagocytic lymphohistiocytosis, familial, 2 Gene:PRF1 NM ID:NM_001083116.1 NO. of Variants:124
  75. Disease: Hemophagocytic lymphohistiocytosis, familial, 3 Gene:UNC13D NM ID:NM_199242.2 NO. of Variants:105
  76. Disease: Hemophagocytic lymphohistiocytosis, familial, 4 Gene:STX11 NM ID:NM_003764.3 NO. of Variants:13
  77. Hemophagocytic lymphohistiocytosis, familial, 5 Gene:STXBP2 NM ID:NM_006949.2 NO. of Variants:41
  78. Disease: X-Linked Severe Combined Immunodeficiency Gene:IL2RG NM ID:NM_000206.2 NO. of Variants:129
  79. Disease: X-Linked Adrenal Hypoplasia Congenita Gene:NR0B1 NM ID:NM_000475.4 NO. of Variants:97
  80. Disease: Androgen Insensitivity Syndrome Gene:AR NM ID:NM_000044.3 NO. of Variants:124
  81. Disease: Androgen Insensitivity Syndrome Gene:PROP1 NM ID:NM_006261.4 NO. of Variants:21
  82. Disease: Autosomal Recessive Polycystic Kidney Disease Gene:PKHD1 NM ID:NM_138694.3 NO. of Variants:138
  83. Disease: Nephrotic syndrome, type 1 Gene:NPHS1 NM ID:NM_004646.3 NO. of Variants:77
  84. Disease: Nephronophthisis 11 Gene:TMEM67 NM ID:NM_153704.5 NO. of Variants:4
  85. Disease: Nephropathic Cystinosis Gene:CTNS NM ID:NM_004937.2 NO. of Variants:65
  86. Disease: Nephropathic Cystinosis Gene:ABCB11 NM ID:NM_003742.2 NO. of Variants:17
  87. Disease: Cystic Fibrosis Gene:CFTR NM ID:NM_000492.3 NO. of Variants:532
  88. Disease: Meckel Syndrome 2 Gene:TMEM216 NM ID:NM_001173990.2 NO. of Variants:3
  89. Disease: Meckel Syndrome 3 Gene:TMEM67 NM ID:NM_153704.5 NO. of Variants:3
  90. Disease: Meckel Syndrome 4 Gene:CEP290 NM ID:NM_025114.3 NO. of Variants:7
  91. Disease: CC2D2A-Related COACH Syndrome Gene:CC2D2A NM ID:NM_001080522.2 NO. of Variants:1
  92. Disease: TMEM67-Related COACH Syndrome Gene:TMEM67 NM ID:NM_153704.5 NO. of Variants:3
  93. Disease: Bloom syndrome Gene:BLM NM ID:NM_000057.2 NO. of Variants:55
  94. Disease: Bjornstad Syndrome Gene:BCS1L NM ID:NM_004328.4 NO. of Variants:6
  95. Disease: GRACILE Syndrome Gene:BCS1L NM ID:NM_004328.4 NO. of Variants:2
  96. Disease: Sjogren-Larsson syndrome Gene:ALDH3A2 NM ID:NM_000382.2 NO. of Variants:66
  97. Disease: Mitochondrial Complex III Deficiency Nuclear Type 1 Gene:BCS1L NM ID:NM_004328.4 NO. of Variants:8
  98. Disease: X-Linked Hypohidrotic Ectodermal Dysplasia Gene:EDA NM ID:NM_001399.4 NO. of Variants:81
  99. Disease: Canavan Disease Gene:ASPA NM ID:NM_000049.2 NO. of Variants:54
  100. Disease: Ellis-van Creveld Syndrome Gene:EVC2 NM ID:NM_147127.4 NO. of Variants:56

(2) Variants of group B

  1. Disease: Phenylketonuria Gene:PAH NM ID:NM_000277.1 NO. of Variants:30
  2. Disease: BH4-deficient hyperphenylalaninemia Gene:PTS NM ID:NM_000317.2 NO. of Variants:3
  3. Disease: Tyrosinemia Type I Gene:FAH NM ID:NM_000137.2 NO. of Variants:1
  4. Disease: Maple Syrup Urine Disease Type 1A Gene:BCKDHA NM ID:NM_000709.3 NO. of Variants:2
  5. Disease: MMAB-Related Methylmalonic Acidemia Gene:MMAB NM ID:NM_052845.3 NO. of Variants:1
  6. Disease: Glycogen Storage Disease Type Ia Gene:G6PC NM ID:NM_000151.3 NO. of Variants:2
  7. Disease: Glycogen Storage Disease Type II Gene:GAA NM ID:NM_000152.3 NO. of Variants:2
  8. Disease: Mucopolysaccharidosis Type IIIA Gene:SGSH NM ID:NM_000199.3 NO. of Variants:1
  9. 9.Disease: Mucopolysaccharidosis Type IIIB Gene:NAGLU NM ID:NM_000263.3 NO. of Variants:1
  10. 10.Disease: Niemann-Pick Disease Type A Gene:SMPD1 NM ID:NM_000543.4 NO. of Variants:5
  11. Disease: Niemann-Pick Disease Type B Gene:SMPD1 NM ID:NM_000543.4 NO. of Variants:5
  12. Disease: Niemann-Pick Disease Type C1 Gene:NPC1 NM ID:NM_000271.4 NO. of Variants:2
  13. Disease: Fabry Disease Gene:GLA NM ID:NM_000169.2 NO. of Variants:3
  14. Disease: Smith-Lemli-Opitz syndrome Gene:DHCR7 NM ID:NM_001360.2 NO. of Variants:3
  15. Disease: Acyl-CoA Dehydrogenase Deficiency,Medium-Chain Gene:ACADM NM ID:NM_000016.4 NO. of Variants:1
  16. Disease: Acyl-CoA Dehydrogenase Deficiency,Short-Chain Gene:ACADS NM ID:NM_000017.2 NO. of Variants:1
  17. Disease: Tay-Sachs Disease Gene:HEXA NM ID:NM_000520.4 NO. of Variants:2
  18. Disease: Duchenne Muscular Dystrophy Gene:DMD NM ID:NM_004006.2 NO. of Variants:1
  19. Disease: Wilson Disease Gene:ATP7B NM ID:NM_000053.3 NO. of Variants:1
  20. Disease: X-Linked Centronuclear Myopathy Gene:MTM1 NM ID:NM_000252.2 NO. of Variants:5
  21. Disease: Neuronal Ceroid-Lipofuscinoses 2 Gene:TPP1 NM ID: NM_000391.3 NO. of Variants:1
  22. Disease: Alpha-thalassemia Gene:HBA1/HBA2 NM ID: NM_000558.3/NM_000517.4 NO. of Variants:3
  23. Disease: Beta-thalassemia Gene:HBB NM ID:NM_000518.4 NO. of Variants:18
  24. Disease: Hemophilia B Gene:F9 NM ID:NM_000133.3 NO. of Variants:42
  25. Disease: Autosomal Recessive Deafness 1A Gene:GJB2 NM ID:NM_004004.5 NO. of Variants:5
  26. Disease: Autosomal Recessive Deafness 4, with Enlarged Vestibular Aqueduct Gene:SLC26A4 NM ID:NM_000441.1 NO. of Variants:2
  27. Disease: Autosomal Recessive Deafness 4, with Enlarged Vestibular Aqueduct Gene:CLRN1 NM ID:NM_174878.2 NO. of Variants:1
  28. Disease: Autosomal Recessive Polycystic Kidney Disease Gene:PKHD1 NM ID:NM_138694.3 NO. of Variants:1
  29. Disease: Nephropathic Cystinosis Gene:CTNS NM ID:NM_004937.2 NO. of Variants:1
  30. Disease: Cystic Fibrosis Gene:CFTR NM ID:NM_000492.3 NO. of Variants:4
  31. Disease: Bjornstad Syndrome Gene:BCS1L NM ID:NM_004328.4 NO. of Variants:1
  32. Disease: X-Linked Hypohidrotic Ectodermal Dysplasia Gene:EDA NM ID:NM_001399.4 NO. of Variants:2
  33. Disease: Canavan Disease Gene:ASPA NM ID:NM_000049.2 NO. of Variants:3
 
Cena testu pre pár je spolu 1980,-EUR pre Variantu A alebo pre Variantu B (odber sa realizuje z bukálnej sliznice u oboch budúcich rodičov).
 
 
 
 

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