Molecular Genetic | BURC Genetic Diagnostic Center

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Molecular Genetic Tests List

Molecular Genetic

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Laboratory Test Directory (1/334)

Molecular Genetic

Results 1 - 100 of 334

1. 11-Beta-Hydroxylase Deficiency

2. 21-Hydroxylase Deficiency

3. Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

4. Aarskog-Scott Syndrome

5. ACE (Angiotensin 1-Converting Enzyme) Genotype Analysis

6. ADAMTS13 Genetic Analysis

7. Adenomatous Colon Polyposis, APC

8. Severe Congenital Neutropenia, Autosomal Recessive

9. Familial Hemophagocytic Lymphohistiocytosis 2, FHL 2

10. Familial Hyperlipidemia

11. Periodic Fever, Familial, Autosomal Dominant (TRAPS) Genetic Analysis

12. Lung Cancer-EGFR Genetic Analysis

13. Achondroplasia

14. Acute Myeloid Leukemia

15. Alagille Syndrome, ALGS

16. Albright Syndrome

17. Alexander Disease

18. Alpha Thalassemia

19. Alpha Thalassemia X-related Mental Retardation Syndrome

20. Alpha-1-Antitrypsin Deficiency

21. Alkaptonuria, AKU

22. Alport Syndrome

23. Alzheimer Disease Type 2

24. Alzheimer Disease Type [1 - 3 - 4] Genetic Analysis

25. Amyotrophic Lateral Sclerosis, ALS

26. Androgen Receptor Gene Analysis

27. Angiotensin 2 Receptor, Type 1 Genetic Analysis

28. Antithrombin 3 Deficiency

29. Aromatase Deficiency Syndrome, AROD

30. Arteriohepatic Dysplasia

31. Increased Nuchal Translucency Genetic Testing Panel

32. ARX Gene Related Diseases

33. Ataxia-Telangiectasia

34. Bardet-Biedl Syndrome

35. Barth Syndrome

36. Bartter Syndrome Type [1-2-3-4]

37. Basal Cell Nevus Syndrome

38. Bernard-Soulier Syndrome

39. Beta Thalassemia

40. Biotinidase Deficiency Genetic Analysis

41. Birt-Hogg-Dube Syndrome Genetic Analysis

42. Blackfan-Diamond Anemia, DBA

43. Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

44. Borjeson-Forssman-Lehmann Syndrome Genetic Analysis, BFLS

45. BRCA1 Genetic Analysis

46. BRCA2 Genetic Analysis

47. CADASIL Genetic Analysis

48. Canavan Syndrome

49. Charcot-Marie-Tooth Neuropathy Type [1A - 1B - 1C - 1D - 1E - 2E/1F]

50. Charcot-Marie-Tooth Neuropathy Type [2 - 2A1 - 2A2 - 2B - 2B1 - 2D - 2E/1F - 2I/2J - 2K - 2L]

51. Charcot-Marie-Tooth, X-Linked Type 1

52. CMTX1 Whole Gene Analysis

53. Coffin-Lowry Syndrome, CLS

54. Celiac Disease

55. Connexin 32 Genetic Analysis

56. Cornelia de Lange Syndrome [1 - 2]

57. Crigler-Najjar Syndrome Type1, Type2 (CNS1, CNS2)

58. CRTAP Related Osteogenesis Imperfecta

59. CYP2C19 Genetic Analysis

60. CYP2C9 Genetic Analysis

61. CYP2D6 Genetic Analysis

62. Dandy Walker Syndrome

63. Danon Disease

64. Dent Disease 1

65. Dentatorubral-Pallidoluysian Atrophy, DRPLA

66. Distal Renal Tubular Acidosis, Autosomal Recessive, RTADR

67. Dystonia 1, DYT 1

68. Dystrophic Epidermolysis Bullosa

69. DJ-1 Related Parkinson Disease

70. Dravet Syndrome

71. Duchenne Muscular Dystrophy, DMD

72. Ehlers Danlos Syndrome Type [1 - 2 - 4 - 6 - 7]

73. EPCR Genetic Analysis

74. Epidermolysis Bullosa

75. Epidermolysis Bullosa Simplex

76. Episodic Ataxia Type 2

77. Fabry Disease

78. Factor 10 Deficiency

79. Factor V Leiden

80. Factor X Deficiency

81. Fanconi-Bickel Syndrome, FBS

82. Farber Disease

83. Facioscapulohumeral Muscular Dystrophy 1A, FSHMD1A

84. Feingold Syndrome

85. Phenylketonuria, PKU

86. FGFR2 Genetic Analysis

87. FLT3 İnhibitörlerine Duyarlılık Testi

88. FMF, Familial Mediterranean Fever

89. Focal Segmental Glomerulosclerosis Type [1 - 2 - 3]

90. Fragile X Genetic Analysis

91. Fraser Syndrome

92. Friedreich Ataxia, FRDA

93. Frontometaphyseal Dysplasia, FMD

94. Frontotemporal Dementia With Parkinsonism 17

95. Fructose Intolerance

96. Fructose-1,6-Bisphosphatase Deficiency

97. FTL Genetic Analysis

98. Galactosemia Genetic Analysis

99. Gastric Cancer-CDH1 Genetic Analysis

100. Gaucher Disease

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