FISH Analysis for Constitutional Abnormalities [UWMC Cytogenetics and Genomics]

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General Information

Lab Name
Lab Code
563
Description

This test can be used to detect aneuploidy of single select chromosomes, microdeletions, microduplications, or polyploidy (with a set of probes) using interphase nuclei and/or metaphase chromosomes.

FISH probes designed to detect chromosome number can be used on interphase cells to give a rapid (1-3 days) diagnosis of constitutional conditions caused by changes in whole chromosome copy number (e.g. Down syndrome due to trisomy 21).

FISH probes can also be used to diagnose constitutional syndromes caused by chromosome deletions and duplications that are too small to be seen with routine karyotyping. The ordering provider should have a high clinical suspicion for a specific disorder if choosing this type of FISH analysis. Otherwise, a chromosomal microarray analysis may be a better test method to use.

Testing is performed by UWMC - Montlake DLMP Cytogenetics and Genomics Laboratories.

EPIC Ordering:

  • Test Name: FISH Constitutional
  • Test Code: FISHCONST2
  • For orders submitted electronically via Epic, a separate requisition form is not required.
Forms & Requisitions

Cytogenetics Constitutional Test Request Form

Synonyms
15q11-q13 Duplication, 1p36 Deletion Syndrome, 22q Deletion Syndrome, 22q Duplication Syndrome, Amniotic, Aneuploidy, AneuVysion, Angelman Syndrome, Cri-du-chat Syndrome, DiGeorge Syndrome, Down Syndrome, Edwards Syndrome, Fluorescence In Situ Hybridization, Kallman Syndrome, Klinefelter Syndrome, Langer-Giedion Syndrome, Microdeletion Syndromes, Microduplication Syndromes, Miller-Dieker Syndrome, Monosomy, Mosaicism, Pallister-Killian Syndrome, Patau Syndrome, Prader-Willi Syndrome, Sex Chromosome Abnormalities, SHOX-related Short Stature, Smith-Magenis Syndrome, Sotos Syndrome, SRY, Steroid Sulfatase Deficiency, STS, Subtelomere, Triploidy, Trisomy, Trisomy 13, Trisomy 18, Trisomy 21, Turner Syndrome, VCFS, Velo-cardio-facial syndrome, Williams Syndrome, Wolf-Hirschhorn Syndrome, X-linked Ichthyosis, XX Testicular Difference of Sex Development, XXX, XXY, XY Difference of Sex Development, XYY

Interpretation

Ordering & Collection

Specimen Type
Amniotic Fluid or Cultured Amniocytes, Chorionic Villi, Fetal Tissue, Peripheral Blood, Products of Conception, Skin Biopsy, Umbilical Cord Blood
Collection

Amniotic Fluid:

  • Collect 15-30mL of fluid obtained under sterile conditions into Corning tissue culture tubes or tubes from a Baxter amniocentesis tray kit. Discard the first 1mL of fluid or use for AFP testing.

Chorionic Villi:

  • Collect up to 40mg chorionic villi in a sterile flask or tube with sterile tissue culture media (supplied by the lab - call 206.598.4488).

Blood:

  • Collect 10mL for adults or 1-3mL for infants of whole blood in preservative-free sodium heparin (green top vacutainer) OR in a sterile heparinized syringe.

Skin Biopsies, Products of Conception, Fetal Tissue:

  • For products of conception, send villi when identifiable. If material is small or unidentifiable, send entire sample. For fetal tissue, send fascia lata, lung, or kidney when possible. Use separate containers and label with contents.
  • Obtain sample under sterile conditions and place in transport media containing antibiotics (e.g. Alpha-MEM media, RPMI). Transport media can be supplied by the lab; call 206.598.4488 to request.
  • If transport media is not available, the following media are acceptable alternatives if shipping time will not exceed 24 hours: lactated Ringer's solution, viral transport medium, or sterile saline.
  • DO NOT USE formaldehyde, formalin, alcohol, or 5% dextrose, or tissue culture medium buffered with bicarbonate.
Forms & Requisitions

Cytogenetics Constitutional Test Request Form

Handling Instructions

Outside Laboratories:

  • Maintain and transport samples at ambient temperature unless otherwise indicated in the Collection section.
  • Sample collection kits are available upon request. Kits include sample collection tubes, transport media (when required), a biohazard bag with absorbent material, a test requisition, and FedEx shipping materials. Contact the lab at (206) 598-4488 to request a kit.
  • A completed request form must accompany all orders.
  • Specimens are accepted 24 hrs/day, 7 days/week.
  • Ship to:
    • Cytogenetics and Genomics Laboratory
      University of Washington Medical Center, Room NW-125
      1959 NE Pacific Street
      Seattle, WA 98195-6100
Quantity
requested: Varies; refer to Collection information.
minimum: Varies; refer to Collection information.

Processing

Processing

Hold specimen(s) at room temperature.

  • Call Cytogenetics and Genomics Laboratory at (206) 598-4489 for pick up. Cytogenetics is staffed on weekends to process specimens.
  • If no answer or after hours, call (206) 598-4488 to leave message.

Performance

LIS Dept Code
Performing Location(s)
Pathology Cytogenetics Laboratory
206-598-4488
Other Locations/Notes

Cytogenetics and Genomics Laboratory

University of Washington Medical Center, Room NW-125
1959 NE Pacific Street
Seattle, WA 98195-6100

  • Ph: (206) 598-4488
  • Fax: (206) 598-2610
  • Email: cytogene@uw.edu
Frequency
Performed daily. TATs: IFISH for aneuploidy on postnatal cord blood, amniotic fluid, CVS: 1-2 days. IFISH for aneuploidy on products of conception or fetal tissue: 7-14 days. FISH for microdeletions, microduplications: 14-21 days.
Available STAT?
Yes

Billing & Coding

CPT codes
Billing Comments

CPTs:

IFISH for aneuploidy on blood: 88230, 88271 x4, 88274 x2, 88291

IFISH for aneuploidy on amniotic fluid: 88235, 88271 x4, 88274 x2, 88291

IFISH for aneuploidy on products of conception or fetal tissue: 88233, 88271 x4, 88274 x2, 88291

FISH for microdeletions or microduplications on amniotic fluid or chorionic villi: 88235, 88271, 88273, 88291

FISH for microdeletions or microduplications on blood: 88230, 88271, 88273, 88291

LOINC