For constitutional studies, a full cytogenetics karyotype is prepared from cultured cells and any abnormalities are confirmed with appropriate FISH probes to clarify the findings and interpretation.  FISH probes for specific syndromes based on the patient phenotype may be ordered.  Targeted FISH for family members of known deletion or duplication carriers is also available. 

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Tests in Constitutional FISH
Showing Results 1 to 10 of 18.

12 Centromere FISH

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8 Centromere FISH

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AneuVysion FISH

  • Test Code:
    7018
  • Department:
    Constitutional FISH
  • Test Synonyms:
    Prenatal FISH • Aneuploidy Screen • I-FISH
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Angelman Syndrome (SNRPN/D15S10) FISH

  • Test Code:
    7020
  • Department:
    Constitutional FISH
  • Test Synonyms:
    del(15)(q11.2-q13) • Prader-Willi syndrome
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CEP X and CEP Y FISH

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Cri-du-Chat (5p-) FISH

  • Test Code:
    8105
  • Department:
    Constitutional FISH
  • Test Synonyms:
    Cat cry syndrome • 5p- • del(5)(p15.2)
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DiGeorge Syndrome (TUPLE1) FISH

  • Test Code:
    7140
  • Department:
    Constitutional FISH
  • Test Synonyms:
    Velocardiofacial syndrome • VCFS • DGS • Deletion 22q11.2 syndrome
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FISH Library - Constitutional

  • Test Code:
    7300
  • Department:
    Constitutional FISH
  • Test Synonyms:
    AneuVysion (chromosomes 13, 18, 21, X and Y) • Angelman Syndrome (SNRPN/D15S10) (15q11-13) • CEP X and CEP Y • Cri-du-chat (5p-) Syndrome (5p15.2) • DiGeorge Syndrome (DGS) (TUPLE1) (22q11.2) • Kallman Syndrome (KAL) (Xp22.3) • Miller-Dieker Syndrome (LIS1) (17p13.3) • Prader-Willi Syndrome (SNRPN/D15S10) (15q11-13) • SHOX-related haploinsufficiency disorders (SHOX) (Xp22.33) • Smith-Magenis Syndrome (SMS) (17p11.2) • SNRPN Dup(15) in autism • SRY-related disorders of sex development (SRY) (Yp11.3) • Steroid Sulfatase (STS) (Xp22.3) • Velocardiofacial Syndrome (VCFS) (TUPLE1) (22q11.2) • Williams Syndrome (ELN) (7q11.23) • Wolf-Hirshhorn (4p-) Syndrome (WHS) (4p16.3)
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Miller-Dieker FISH

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Prader-Willi Syndrome (SNRPN/D15S10) FISH

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