upmc   PITTSBURGH CYTOGENETICS LABORATORY

 

LABORATORY SERVICES

 

Prenatal Fluorescence in situ Hybridization (FISH) Tests

FISH testing is a molecular cytogenetic analysis that identifies specific chromosomal abnormalities by the evaluating presence or absence of fluorescently-colored signals in metaphase chromosomes or interphase nuclei. FISH results for rapid diagnosis of aneuploidy are typically provided within 24-48 hours from the receipt of the specimen.

CLINICAL INDICATIONS FOR FISH TEST

SAMPLES FOR PRENATAL CHROMOSOME ANALYSIS:

PRENATAL DIAGNOSIS (KARYOTYPING and AneuVysion FISH)
Specimen types requirements turnaround times
Chorionic villi Minimum 10-15 mg of chorionic villus tissue in a sterile tube containing culture medium, sterile saline or balanced salt solution 7-14 days
Amniotic Fluid Minimum 20cc of the fluid 7-14 days

 

SPECIMEN REQUIREMENTS (PDF TABLE)

CONSITUTIONAL STUDY REQUISITION FORM (PDF TABLE)

TYPE OF PRENATAL FISH STUDIES

FISH FOR ANEUPLOIDY AND POLYPLOIDY

AneuVysion PROBE
syndromes Regions Probe Regions
Sex chromosomes
anueploidy/Trisomy 18
Xp11.1-q11.1/ Yp11.1-q11.1/ 18p11.1-q11.1 DXZ1/ DYZ3/
D18Z1
Trisomy 13/Trisomy 21 13q14/ 21q22.1-q22.2 RB1/D21S259, D21S341, D21S342
(21q22.13-q22.2)

 

FISH FOR MICRODELETION/MICRODUPLICATION SYNDROMES

FISH PROBES FOR MICRODELETION AND DUPLICATION SYNDROMES
syndromes Regions Probes
1p36 microdeletion 1p36 p58
Cri-du-Chat syndrome 5p15.2/5q31 D5S23, D5S721/EGR1
DiGeorge/Velo-Cardio-Facial
syndrome
22q11.2 TUPLE1 (HIRA)
DiGeorge II 10p14 Di-George II / SE10
Kallmann syndrome Xp22.3 KAL/XCEP
Miller-Dieker syndrome/Lissencephaly 17p13.3 LSI LIS1/LSI RARA
Phelan-McDermid syndrome 22q13.3 SHANK3
Prader-Willi/Angelman Region 15q11.2 SNRPN / CEP 15 (D15Z1) / PML;D15S10/CEP 15 (D15Z1)/PML;LSI D15S11/CEP 15 (D15Z1)
SHOX1 deletion Xp22.33;Yp11.3 SHOX
Smith-Magenis syndrome 17p11.2/17q21.1 SMS Region RARA
Sotos syndrome 5q35 NSD1
Steroid Sulfatase deficiency Xp22.3/CEPX STS/CEPX
SRY Yp11.3 SRY
Wolf-Hirschhorn syndrome 4p16.3 WHS/4CEP
Williams syndrome deletion 7q11.23/7q31 ELN/ D7S486, D7S522

 

FISH FOR SUBTELOMERIC REARRANGEMENTS

SUBTELOMERIC PROBES
41 TelVysion probes specific  to p and q subtelomeres of chromosomes 1-12 and 16-20, q subtelomeres of the acrocentric chromosomes (13, 14, 15, 21, 22), Xp/Yp and Xq/Yq pseudo-autosomal region subtelomeres

 

FISH for aCGH confirmation

BAC PROBES
Whole genomic BAC library is available for aCGH confirmation.

 

(PDF TABLE FOR PROBE LIST)

ADVANTAGES AND LIMITATIONS