Hartă analize: Diagnostic genetic

Total: 136 de 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. Fibroza chistica – detectia celor mai frecvente 36 mutatii in gena CFTR
  23. Fibroza chistica (mucoviscidoza) – Gena CFTR secventiere NGS
  24. Fibroza chistica (mucoviscidoza) – Gena CFTR testare MLPA
  25. FISH pentru cromozomii sexuali
  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 Nemaline tip 2 (Secvetiere 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. Genotipare RHD
  36. Hemocromatoza ereditara – detectia mutatiei C282Y la nivelul genei HFE
  37. Hemocromatoza ereditara – detectia mutatiei H63D la nivelul genei HFE
  38. Hemocromatoza ereditara – detectia mutatiei S65C la nivelul genei HFE
  39. Hemofilia A – gena F8- detectie deletii/duplicatii prin MLPA
  40. Hemofilia A – secventierea genei F8 (include secventiere Sanger pentru regiunea cu omologie inalta)
  41. Hemofilia A- gena F8 – detectie inversie intron 22 si intron 1
  42. Hemofilia A- gena F8 – secventiere Sanger (regiunea cu nivel inalt de omologie)
  43. HLA B27
  44. HLA clasa I, genotipare HLA-A si HLA-B
  45. HLA Clasa II,genotipare HLA-DQ si HLA-DR
  46. Intoleranta primara la lactoza
  47. LIPA – Analiza enzimatica lipaza acida lizozomala (LAL)
  48. MLPA (analiza deletii/duplicatii) genele PKD1 si PKD2 (Boala polichistica renala cu transmitere autozomal dominanta)
  49. MPV17 – secventiere NGS (Boala Charcot-Marie-Tooth tip 2EE / MTDPS6)
  50. MS-MLPA pentru Sindrom Prader-Willi /Sindrom Angelman (diagnostic postnatal)
  51. MS-MLPA pentru Sindrom Silver-Russell/Beckwith-Wiedemann
  52. Neurofibromatoza tip 1 – gena NF1 – secventiere NGS
  53. Neurofibromatoza tip 1 – gena NF1 – analiza deletii si duplicatii
  54. Neurofibromatoza tip 2 – gena NF2 – secventiere NGS
  55. NewBorn – screening genetic pentru boli metabolice la nou-nascut
  56. Panel Boala Stargardt si distrofii maculare
  57. Panel boli ce asociaza dismorfism (include craniosinostoze, RAS-opatii, Boala Hirschsprung, lizencefalie si alte sindroame cu malformatii cerebrale si craniofaciale)
  58. Panel boli dermatologice genetice – CentoSkin
  59. Panel boli genetice cu afectare pulmonara – Pulmonary panel
  60. Panel Boli genetice de coagulare – Blood coagulation panel
  61. Panel boli genetice de tesut conjunctiv – Connective tissue and related disorders 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 (93 de gene)
  69. Panel Cardiomiopatie hipertrofica familiala, panel 1
  70. Panel Cardiomiopatie hipertrofica familiala, panel 2
  71. Panel Cardiomiopatie restrictiva familiala
  72. Panel Dementa/Scleroza laterala amiotrofica – Amyotrophic lateral sclerosis (ALS) / Dementia panel
  73. Panel erori inascute de metabolism – CentoIEM
  74. Panel genetic Albinism
  75. Panel genetic Anemie si boli ce asociaza aplazie medulara – Bone marrow failure / Anemia panel
  76. Panel genetic Ataxie – analiza expansiunilor repetitive – Ataxia repeat expansion panel
  77. Panel genetic autism
  78. Panel genetic Boala Alzheimer
  79. Panel genetic boli osoase cu mineralizare anormala – Abnormal mineralization panel
  80. Panel genetic cardiomiopatii
  81. Panel genetic Ciliopatii
  82. Panel genetic Craniosinostoze
  83. Panel genetic Diabet si obezitate – Diabetes and obesity panel
  84. Panel genetic Dislipidemii
  85. Panel genetic Displazii osoase/boli scheletale
  86. Panel genetic Dizabilitate intelectuala – Intellectual disability panel
  87. Panel genetic Hiperbilirubinemii
  88. Panel genetic Hiperplazia congenitala de suprarenala – secventiere NGS si detectie CNV – Congenital adrenal hyperplasia panel
  89. Panel genetic Imunodeficiente primare
  90. Panel genetic Pancreatita cronica
  91. Panel Hemocromatoza ereditara
  92. Panel NGS Boala polichistica renala (< 30 gene, include analiza genei PKD1 – secventiere NGS + LR-PCR)
  93. Panel NGS Carrier screening avansat bazat pe exom (>2000 gene) si WES – Bioexome
  94. Panel NGS Carrier screening avansat bazat pe exom (peste 2000 gene) si panel personalizat (1-3000 gene)
  95. Panel Obezitate monogenica
  96. Panel Plus Boli renale genetice – CentoNefro Plus (include analiza genei PKD1 – Boala polichistica renala autozomal dominanta)
  97. Panel Sindrom Brugada si alte aritmii genetice
  98. Panel Sindrom Marfan si boli de tesut conjunctiv inrudite
  99. Panel Sindrom Noonan si alte RAS-opatii
  100. Panel surditate genetica – CentoHear
  101. Predispozitie genetica boala celiaca (HLA DQ2 si DQ8)
  102. Scleroza laterala amiotrofica cu dementa frontotemporala (SLA) – gena C9orf72 – analiza expansiunii repetitive
  103. Secventiere NGS – gena SHOX
  104. Secventiere NGS – gena SOX9
  105. Secventiere NGS – gena SRY
  106. Secventiere NGS – gena OTC (Deficienta de ornitin-transcarbamilaza)
  107. Secventiere NGS gena ABCD1
  108. Secventiere NGS gena NPHP1
  109. Secventiere NGS gena TSHR (receptorul pentru TSH)
  110. Sindrom Angelman/Prader Willi – studiul metilarii la nivelul genei SNRPN
  111. Sindrom de hipoventilare centrala congenitala de tip 1, cu sau fără boala Hirschsprung – analiza expansiunilor in gena PHOX2B
  112. Sindrom Dravet – analiza NGS a genei SCN1A
  113. Sindrom Gilbert – screening pentru polimorfismul UGT1A1*28 (rs8175347)
  114. Sindrom Tourette – gena SLITRK1- secventiere NGS
  115. Sindromul TAR (Trombocitopenie cu Absenta Radiusului) – gena RBM8A- secventiere NGS
  116. Testare boli mitocondriale – Analiza ADN mitocondrial si a genelor nucleare asociate cu boli mitocondriale – CentoMito Comprehensive
  117. Testare genetica alfa- talasemie (genele HBA1, HBA2)- secventiere Sanger si gap-PCR (deletii comune 3.7, 4.2, 20.5, FIL, MED, SEA)
  118. Testare genetica alfa-talasemie – MLPA
  119. Testare genetica alfa-talasemie (genele HBA1, HBA2) – secventiere Sanger
  120. Testare genetica beta-talasemie (gena HBB) – MLPA
  121. Testare genetica beta-talasemie (gena HBB) – secventiere NGS
  122. Testare genetica NGS – Scleroza tuberoasa
  123. Testare genetica tintita (deletie/duplicatie – qPCR) – Carrier testing qPCR (del/dup)
  124. Testare genetica tintita (mutatie punctiforma – secventiere Sanger) – Carrier testing Sanger (point mutation)
  125. Testare MLPA – gena SHOX
  126. Testare MLPA – gena GAA (Boala Pompe)
  127. Testare MLPA – gena OTC (Deficienta de ornitin-transcarbamilaza)
  128. Testare mutatie tintita postnatal
  129. Testare mutatii mitocondriale tintite cunoscute
  130. Testare panel NGS personalizat (101- 3000 gene)
  131. Testare panel NGS personalizat (31-100 gene)
  132. Testare panel NGS personalizat (pana la 30 gene)
  133. Testare panel NGS somatic personalizat (<30 gene) – din biopsie tisulara
  134. Testare panel somatic NGS personalizat (101- 3000 gene)
  135. Testare panel somatic NGS personalizat (31-100 gene)
  136. Tulburari de dezvoltare ectodermala – analiza NGS a genei TSPEAR