Microdeletion Syndromes | BURC Genetic Diagnostic Center

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Microdeletion Syndromes Tests List

Microdeletion Syndromes

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Laboratory Test Directory (1/51)

Microdeletion Syndromes

Results 1 - 51 of 51

1. 22q11.2 Deletion Analysis

2. 4p- Syndrome

3. Alagille Syndrome

4. Angelman Syndrome

5. Arteriohepatic Dysplasia

6. Beckwith-Wiedemann Syndrome

7. Broad Thumbs-Hallux Syndrome

8. Cat Cry Syndrome. Del 5p15.2 (FISH)

9. CHARGE Syndrome Genetic Analysis

10. Cri Du Chat Syndrome. Del 5p15.2 (FISH)

11. Del 16p13.3 - p13.12 (FISH)

12. Del 17p13.3 (FISH)

13. Del 17q11.2 Analysis

14. Del 1p36 FISH

15. Del 22q11.2

16. Del 5p15.2 (FISH)

17. Del 8p11.2 (FISH)

18. Del 8p23.1 (FISH)

19. Del 8q24 (FISH)

20. Del Xp22.3 (FISH)

21. Del Xp22.32 (FISH)

22. Del Xpter-p22.32

23. Exomphalos-Macroglossia-Gigantism Syndrome

24. Hypogonadotropic Hypogonadism And Anosmia Del 8p11.2 (FISH)

25. Hypogonadotropic Hypogonadism And Anosmia Del Xp22.3 (FISH)

26. Ichthyosis Steroid Sulfatase Del Xp22.32 (FISH)

27. Ichthyosis Steroid Sulfatase Del Xp22.32 (FISH)

28. JAG1-Related Alagille Syndrome

29. Kallmann (KAL1) Syndome Del Xp22.3 (FISH)

30. Kallmann Syndrome (KALL2) Del 8p11.2 (FISH)

31. Langer-Giedion Syndrome Del 8q24 (FISH)

32. Lissencephaly Del 17p13.3 (FISH)

33. Mental Retardation And Congenital Heart Defect Del 8p23.1(FISH)

34. Miller Dieker, MDLS Syndrome. Del 17p13.3 (FISH)

35. Monosomy 4p

36. Neurofibromatosis Type 1

37. Pitt-Rogers-Danks Syndrome

38. Prader Willi Syndrome

39. Prader-Labhart-Willi Syndrome

40. Rubinstein-Taybi Syndrome

41. Short Stature, Idiopathic, X-Linked

42. Smith-Magenis Syndrome

43. Steroid Sulfatase Mikrodelesyon (FISH)

44. Trico Rhino Phalangeal Syndrome Del 8q24 (FISH)

45. TSC2 - PKD1 Deletion (FISH)

46. Von Recklinghausen Disease

47. WAGR Syndrome

48. Williams Syndrome

49. Williams Beuren Syndrome

50. Wilms Tumor--Aniridia—Genitourinary Anomalies--Mental Retardation Syndrome

51. Wolf-Hirschhorn Syndrome

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