Microdeletion Syndromes | BURC Genetic Diagnostic Center

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Microdeletion Syndromes Tests List

Microdeletion Syndromes

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Laboratory Test Directory (1/44)

Microdeletion Syndromes

Results 1 - 44 of 44

1. 22q11.2 Deletion Analysis

2. 4p- Syndrome

3. Angelman Syndrome

4. Beckwith-Wiedemann Syndrome

5. Broad Thumbs-Hallux Syndrome

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

7. Charge Syndrome

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

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

10. Del 17p13.3 (FISH)

11. Del 17q11.2 Analysis

12. Del 1p36 FISH

13. Del 22q11.2

14. Del 5p15.2 (FISH)

15. Del 8p11.2 (FISH)

16. Del 8p23.1 (FISH)

17. Del 8q24 (FISH)

18. Del Xp22.3 (FISH)

19. Del Xp22.32 (FISH)

20. Exomphalos-Macroglossia-Gigantism Syndrome

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

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

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

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

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

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

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

28. Lissencephaly Del 17p13.3 (FISH)

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

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

31. Monosomy 4p

32. Pitt-Rogers-Danks Syndrome

33. Prader Willi Syndrome

34. Prader-Labhart-Willi Syndrome

35. Rubinstein-Taybi Syndrome

36. Steroid Sulfatase Mikrodelesyon (FISH)

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

38. TSC2 - PKD1 Deletion (FISH)

39. Von Recklinghausen Disease

40. WAGR Syndrome

41. Williams Syndrome

42. Williams Beuren Syndrome

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

44. Wolf-Hirschhorn Syndrome

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