upmc   PITTSBURGH CYTOGENETICS LABORATORY

 

LABORATORY SERVICES

 

POSTNATAL FLUORESCENCE IN SITU HYBRIDIZATION (FISH) TESTING

FISH testing is a molecular cytogenetic analysis that identifies specific chromosomal abnormalities by evaluating the presence or absence of fluorescence labeled 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.

SPECIMEN REQUIREMENTS

POSTNATAL AND ADULT KARYOTYPING AND FISH
Specimen Types Requirements Turnaround times
Peripheral Blood 1green top tube (1 x NaHep) containing 5 cc whole blood >2-4 weeks for routine cases;

48 hr. verbal preliminary results on STAT analyses; 7 day final report on STAT analyses.
For infant or young children: 1 green top tube (1 x NaHep ) containing 1-3 cc whole blood
If CGH testing is anticipated later 1 purple top tube   (1 x EDTA vacutainer) containing 5cc whole blood is requested
POSTNATAL AND ADULT (CGH or CGH+SNP, FISH and KARYOTYPING)
Specimen Types Requirements Turnaround times
Peripheral Blood 1 green top tube (1 x NaHep) and one purple top tube (1XEDTA) , each containing 5 cc whole blood

For infant or young children:
1 green top tube (1 x NaHep) and one purple top tube (1XEDTA) , each containing -1-3 cc whole blood

1green top tube (1 x NaHep) containing 5cc whole peripheral blood from each parent
 

 

SPECIMEN REQUIREMENTS (PDF TABLE)
CONSITUTIONAL STUDY REQUISITION FORM (PDF TABLE)

 

TYPES OF POSTNATAL FISH STUDIES

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/CEPx
Miller-Dieker syndrome/Lissencephaly 17p13.3 LSI LIS1/LSI RARA
Phelan-McDermid syndrome 22q13.3 SHANK3
Prader-Willi/Angelman Region 15q11.2 SNRPN / CEP15 (D15Z1) / PML;
D15S10/CEP15 (D15Z1)/PML;
LSI D15S11/CEP15 (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/CEP4
Williams syndrome deletion 7q11.23/7q31 ELN/ D7S486, D7S522

 

FISH FOR ANEUPLOIDY

AneuVysion PROBE
SYNDROMES Regions Probe Regions
Sex chromosome 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)

 

CHROMOSOME ENUMERATION PROBES
Chromosome 1 (CEP1) Chromosome 9 (CEP9) Chromosome 16 (CEP16)
Chromosome 2 (CEP2) Chromosome 10 (CEP10) Chromosome 17 (CEP17)
Chromosome 3 (CEP3) Chromosome 11 (CEP11) Chromosome 18 (CEP18)
Chromosome 4 (CEP4) Chromosome 12 (CEP12) Chromosome 20 (CEP20)
Chromosome 6 (CEP5) Chromosome 13/21 (13/21 alpha sat) Chromosome 21/13 (alpha sat)
Chromosome 7 (CEP6) Chromosome 14/22 (14/22 alpha sat) Chromosome 22/14 (alpha sat)
Chromosome 8 (CEP7) Chromosome 15 (alpha sat) Chromosome X (CEPX)
Chromosome Y (CEPY) Chromosome Y Heterochromatic region (DYZ1)  

 

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