Hartă analize: Diagnostic genetic

Total: 116 analize · Vezi categoria Diagnostic genetic

  1. ADN mitocondrial secventiere
  2. Amiloidoza ereditara – secventiere NGS – gena TTR
  3. Analiza ADN mitocondrial – secventiere NGS a genomului mitocondrial – CentoMito Genome
  4. Analiza expansiunilor in gena DMPK – Distrofia miotonica Steinert (STEIN)
  5. Analiza genei GBA1 – Boala Gaucher (secventiere si LR-PCR)
  6. Analiza genei PKD1- Boala polichistica renala autozomal dominanta (secventiere NGS + LR-PCR)
  7. Analiza moleculara a numarului de copii SMN1 si SMN2 (Atrofia musculara spinala)
  8. Analiza NGS a genei ATP2A2 – Boala Darier
  9. Analiza NGS a genei NOTCH3 – Sindrom CADASIL
  10. Ataxia Friedreich – gena FXN – analiza expansiunii repetitive
  11. Ataxia Friedreich – gena FXN – secventiere NGS si CNV
  12. Atrofie musculara bulbara si spinala X – linkata (sindrom Kennedy) – gena AR – analiza expansiunii repetitive
  13. Boala Huntington – gena HTT – analiza expansiunii repetitive
  14. Boala Pompe- gena GAA- secventiere NGS
  15. Boala Stargardt tip 1 – gena ABCA4 – secventiere NGS
  16. Boala Wilson – Testare MLPA (detectarea deletiilor si duplicarilor in gena ATP7B)
  17. Boala Wilson – Testare NGS gena ATP7B
  18. Deficit de alfa-1 antitripsina, gena SERPINA1, genotiparea variantelor S si Z
  19. Detectia mutatiilor in gena BRAF – patologii diverse (5 mutatii in codonul 600: V600E/K/D/R/M) (tesut inclus in parafina)
  20. Distrofie miotonica tip 1 (DM1) – analiza expansiunilor CTG in gena DMPK
  21. Distrofie musculara Duchenne/Becker – gena DMD – secventiere NGS
  22. Distrofie musculara facioscapulohumerala tip 1 (FSHD1) – analiza moleculara a numarului repetitiilor D4Z4 (din regiunea cromozomila 4q35)
  23. Fibroza chistica – detectia celor mai frecvente 36 mutatii in gena CFTR
  24. Fibroza chistica (mucoviscidoza) – Gena CFTR secventiere NGS
  25. Fibroza chistica (mucoviscidoza) – Gena CFTR testare MLPA
  26. FISH pentru cromozomul X si gena SRY
  27. Gena ACADM – Deficienta de Acyl-CoA dehidrogenaza cu lant mediu (MCAD deficiency), secventiere NGS
  28. Gena ALDOB, intoleranta la fructoza (secventiere NGS)
  29. Gena DDX3X Secventiere completa
  30. Gena DMD – Distrofie musculara Duchenne/Becker (testare MLPA)
  31. Gena NEB – miopatie nemalinica tip 2 (secventiere NGS)
  32. Gena Serpina1 – Deficienta de alfa1 antitripsina (Secventiere NGS)
  33. Gena SMN 1 – Atrofie musculara spinala (secventiere)
  34. Gena SMN1 si gena SMN2 – Atrofia musculara spinala (testare MLPA)
  35. Genome DX-WGS (whole genome sequencing)
  36. Genotipare RHD
  37. Hemocromatoza ereditara – detectia mutatiei C282Y la nivelul genei HFE
  38. Hemocromatoza ereditara – detectia mutatiei H63D la nivelul genei HFE
  39. Hemocromatoza ereditara – detectia mutatiei S65C la nivelul genei HFE
  40. Hemofilia A – gena F8- detectie deletii/duplicatii prin MLPA
  41. Hemofilia A – secventierea genei F8 (include secventiere Sanger pentru regiunea cu omologie inalta)
  42. Hemofilia A- gena F8 – detectie inversie intron 22 si intron 1
  43. Hemofilia A- gena F8 – secventiere Sanger (regiunea cu nivel inalt de omologie)
  44. HLA B27
  45. HLA clasa I, genotipare HLA-A si HLA-B
  46. HLA Clasa II,genotipare HLA-DQ si HLA-DR
  47. Intoleranta primara la lactoza
  48. LIPA – Analiza enzimatica lipaza acida lizozomala (LAL)
  49. MLPA (analiza deletii/duplicatii) genele PKD1 si PKD2 (Boala polichistica renala cu transmitere autozomal dominanta)
  50. MPV17 – secventiere NGS (Boala Charcot-Marie-Tooth tip 2EE / MTDPS6)
  51. MS-MLPA pentru Sindrom Prader-Willi /Sindrom Angelman (diagnostic postnatal)
  52. MS-MLPA pentru Sindrom Silver-Russell/Beckwith-Wiedemann
  53. Neurofibromatoza tip 1 – gena NF1 – secventiere NGS
  54. Neurofibromatoza tip 1 – gena NF1 – analiza deletii si duplicatii
  55. Neurofibromatoza tip 2 – gena NF2 – secventiere NGS
  56. NewBorn – screening genetic pentru boli metabolice la nou-nascut
  57. Panel Boala Stargardt si distrofii maculare
  58. Panel boli ce asociaza dismorfism (include craniosinostoze, RAS-opatii, Boala Hirschsprung, lizencefalie si alte sindroame cu malformatii cerebrale si craniofaciale)
  59. Panel boli dermatologice genetice – CentoSkin
  60. Panel boli genetice cu afectare pulmonara – Pulmonary panel
  61. Panel Boli genetice de coagulare – Blood coagulation panel
  62. Panel boli imunologice genetice – CentoImmuno
  63. Panel boli metabolice genetice: analiza genetica (NGS+CNV) si analiza biochimica a enzimelor si biomarkerilor-CentoMetabolic Mox
  64. Panel boli neurologice genetice – CentoNeuro
  65. Panel boli oftalmologice genetice – CentoVision
  66. Panel boli renale genetice – CentoNefro
  67. Panel Cardiomiopatie dilatativa familiala
  68. Panel Cardiomiopatie hipertrofica familiala, panel 1
  69. Panel Cardiomiopatie hipertrofica familiala, panel 2
  70. Panel Cardiomiopatie restrictiva familiala
  71. Panel Dementa/Scleroza laterala amiotrofica – Amyotrophic lateral sclerosis (ALS) / Dementia panel
  72. Panel erori inascute de metabolism – CentoIEM
  73. Panel genetic Albinism
  74. Panel genetic Anemie si boli ce asociaza aplazie medulara – Bone marrow failure / Anemia panel
  75. Panel genetic Ataxie – analiza expansiunilor repetitive – Ataxia repeat expansion panel
  76. Panel genetic Boala Alzheimer
  77. Panel genetic boli osoase cu mineralizare anormala – Abnormal mineralization panel
  78. Panel genetic cardiomiopatii
  79. Panel genetic Ciliopatii
  80. Panel genetic Craniosinostoze
  81. Panel genetic Diabet si obezitate – Diabetes and obesity panel
  82. Panel genetic Dislipidemii
  83. Panel genetic Displazii osoase/boli scheletale
  84. Panel genetic Dizabilitate intelectuala – Intellectual disability panel
  85. Panel genetic Epilepsie – Epilepsy panel
  86. Panel genetic Hiperbilirubinemii
  87. Panel genetic Imunodeficiente primare
  88. Panel genetic Pancreatita cronica
  89. Panel Hemocromatoza ereditara
  90. Panel NGS Boala polichistica renala (< 30 gene, include analiza genei PKD1 – secventiere NGS + LR-PCR)
  91. Panel NGS Carrier screening avansat bazat pe exom (>2000 gene) si panel personalizat (1-3000 gene)
  92. Panel NGS Carrier screening avansat bazat pe exom (>2000 gene) si WES – Bioexome
  93. Panel Obezitate monogenica
  94. Panel Sindrom Brugada si alte aritmii genetice
  95. Panel Sindrom Marfan si boli de tesut conjunctiv inrudite
  96. Panel Sindrom Noonan si alte RAS-opatii
  97. Predispozitie genetica boala celiaca (HLA DQ2 si DQ8)
  98. Secventiere NGS – gena OTC (Deficienta de ornitin-transcarbamilaza)
  99. Secventiere NGS gena ABCD1
  100. Secventiere NGS gena NPHP1
  101. Sindrom Angelman/Prader Willi – studiul metilarii la nivelul genei SNRPN
  102. Sindrom de hipoventilare centrala congenitala de tip 1, cu sau fără boala Hirschsprung – analiza expansiunilor in gena PHOX2B
  103. Sindrom Dravet – analiza NGS a genei SCN1A
  104. Sindrom Gilbert – screening pentru polimorfismul UGT1A1*28 (rs8175347)
  105. Sindromul TAR (Trombocitopenie cu Absenta Radiusului) – gena RBM8A- secventiere NGS
  106. Testare genetica NGS – Scleroza tuberoasa
  107. Testare genetica tintita (mutatie punctiforma – secventiere Sanger) – Carrier testing Sanger (point mutation)
  108. Testare MLPA – gena GAA (Boala Pompe)
  109. Testare MLPA – gena OTC (Deficienta de ornitin-transcarbamilaza)
  110. Testare mutatie tintita postnatal
  111. Testare panel NGS personalizat (101- 3000 gene)
  112. Testare panel NGS somatic personalizat (<30 gene) – din biopsie tisulara
  113. Testare panel somatic NGS personalizat (101- 3000 gene)
  114. Testare panel somatic NGS personalizat (31-100 gene)
  115. Tulburari de dezvoltare ectodermala – analiza NGS a genei TSPEAR
  116. Virus Epstein-Barr (EBV) – diagnostic molecular, probe diverse