Test name: POSTNATAL FISH including Aneuploidy FISH and/or Constitutional (Targeted) FISH
Also known as: Fluorescence in situ hybridization (FISH), trisomy panel or FISH for aneuploidy, FISH for microdeletions/microduplications

  Indications Test Information

Aneuploidy FISH

  • Rapid Aneuploidy FISH
    (Newborn: 0-3 months)

  • Aneuploidy FISH
    (>3 months of age)

Physical exam suggestive of Down syndrome, Trisomy 18, Trisomy 13, or sex chromosome aneuploidy (X & Y).

Fluorescence in situ hybridization (FISH) is used to detect approximately 99% of +13, +18, +21 and aneuploidies of X & Y.

Aneuploidy FISH is not designed to detect structural chromosome abnormalities and mosaicism can lead to inconclusive results in some situations.

Postnatal Chromosome Analysis is required on the same specimen.

Constitutional (Targeted) FISH

See list below for current probes

Multiple congenital abnormalities with or without intellectual disability that suggest a particular microdeletion/microduplication condition.

Family history of a prior child with a previously identified microdeletion/microduplication or familial chromosome rearrangement.

Fluorescence in situ hybridization (FISH) tests can be ordered individually. This test is recommended in conjunction with Postnatal Chromosome Analysis.

Note: All of these microdeletion/microduplication conditions are also identified on the 180K Microarray for Congenital Anomalies/DD/Autism  or the UPD Array. 

 

Current list of HGL CONSTITUTIONAL (Targeted) FISH tests

(* = Home-brew probes)
1p deletion [1p36]
16p Autism probe [16p11.2]
Charcot-Marie-Tooth / HNPP [17p12]*
CHARGE [8q12.2]
Cri-du-Chat [5p15.2]
DiGeorge Syndrome [22q11.2]
Kallmann Syndrome [Xp22.3]
Sotos Syndrome (NSD1) [5q35]
Langer Giedion [8q24]*
MECP-2 duplication [Xq28]
Miller Dieker [17p13.3]

Pallister-Killian Syndrome [12p]
Prader-Willi / Angelman [15q11.2]
Rubinstein-Taybi [16q13.3]*
SHOX [Xp22.3/Yp11.3]
Smith Magenis [17p11.2]
Steroid Sulfatase (STS) [Xp22.3]
SRY [Yp11.3]
Waardenburg Syndrome I (PAX3) [2q35]*
Waardenburg Syndrome III [2q36-37]*
Williams Syndrome [7q11.23]
Wolf-Hirschhorn [4p16.3]
XIST, X inactivation site [Xq13]

ALSO AVAILABLE:
Centromere enumeration
Human multicolor (M-FISH)
Subtelomere analysis for each chromosome
Whole chromosome Paint Probes
All probes in the FISH test catalog above are available for assessment of chromosomal abnormalities based on family history or suspicious/abnormal cytogenetic findings. Please contact the laboratory for case-specific probe availability.

Additional postnatal tests available (refer to additional pages for details):

Postnatal Chromosome Analysis
180K Microarray for Congenital Anomalies/DD/Autism
UPD Array

Single gene testing –
refer to Test Catalog for tests offered at HGL


Specimen requirements: Postnatal Chromosome Analysis for confirmation and clarification of trisomy, translocation, or mosaicism of 13, 18, 21 or sex chromosome differences is required in conjunction with Rapid Aneuploidy FISH. Postnatal Chromosome Analysis is recommended in conjunction with any Constitutional (Targeted) FISH.

 • One 2-5 ml whole blood sodium heparin (green top) tube (minimum 1 ml for newborn)


CPT codes based on specimen type:

BUCCAL SWAB SPECIMENS

  • Aneuploidy screen: 88271(x5), 88275(x2), 88291
    Aneuploidy screen with 22q11.2 analysis: 88271(x7), 88275(x3), 88291
  • Locus-specific testing
    One chromosomal target: 88271(x1-3), 88275, 88291

 For each additional chromosomal target: 88271(x1-2), 88275(x0-1) plus the “One chromosomal target” CPT codes listed above

 

PARAFFIN-EMBEDDED SPECIMENS

  • Aneuploidy screen: 83892, 88271(x5), 88275(x2), 88291
    Aneuploidy screen with 22q11.2 analysis: 83892, 88271(x7), 88275(x3), 88291
  • Locus-specific testing
    One chromosomal target: 83892, 88271(x1-3), 88275, 88291

For each additional chromosomal target: 83892, 88271(x1-2), 88275(x0-1) plus the “One chromosomal target” CPT codes listed above

 

PERIPHERAL BLOOD SPECIMENS

Age 0-3 months

  • Rapid Aneuploidy screen: 88230, 88271(x5), 88275(x2), 88291
    Aneuploidy screen with 22q11.2 analysis: 88230, 88271(x7), 88275(x3), 88291
  • Locus-specific testing
    One chromosomal target: 88230, 88271(x1-3), 88275, 88291

For each additional chromosomal target: 88271(x1-2), 88275(x0-1) plus the “One chromosomal target” CPT codes listed above

Age 3+ months

  • Aneuploidy screen: 88271(x5), 88275(x2), 88291
    Aneuploidy screen with 22q11.2 analysis: 88271(x7), 88272, 88275(x3), 88291
  • Locus-specific testing
    One chromosomal target: 88271(x1-3), 88272, 88275, 88291
    *If concurrent G-bands studies are NOT being performed, add 88230 to the “One chromosomal target” CPT codes.

 For each additional chromosomal target: 88271(x1-2), 88272, 88275(x0-1) plus the “One chromosomal target” CPT codes listed above 

NOTE: FISH analysis on metaphase chromosomes (CPT: 88272) may be added to a specimen based on identified cytogenetic findings


Pricing: Contact the laboratory billing staff for current costs

Shipping & Handling 

Required forms: Postnatal Test Request Form 

Turn-around time: Results are typically available in 24-48 hours for Rapid Aneuploidy FISH and 22q

Results for other Constitutional (Targeted) FISH are typically available 7 days 

revised: 7-16-12

contact us
Phone:  402-559-5070 
1-800-656-3937 x95070
Fax:  402-559-7248
humangenetics@unmc.edu

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