FISH techniques offer the following :

· Multiple chromosome rearrangement analysis.

· chromosome translocation detection.

· Marker chromosome detection.

· Chromosome rearrangement studies or mutagenesis , radiation or chemical dosimetry.

· Aneuploidy detection.

· Evaluation of chromosome anomalies in pre implantation , prenatal and post natal genetic testing and research.

· Provide rapid information on chromosome abnormalities in particular critical in medical urgent situations .

· Aneuploidy analysis on specimens that do not provide metaphase cells for analysis [ such as in situations of culture failure].

· Rapid method of detection of trisomy 13, 18 , 21 ( Down syndrome) and sex chromosome aneusomies ( such as Klinefelter and Turner syndrome ).

· Provide information on chromosome copy number for single cell chromosome ploidy enumeration.

· Determining chromosomal anomalies.

• Conformation study of cytogenetic results in the presence of abnormal chromosomal structural anomalies such as partial trisomy , partial monosomy , balanced and unbalanced translocations and the presence of markers and fragments.

SEX CHROMOSOME IDENTIFICATION

· Ambiguous genitalia

· SRY --TDF ( Testis determining factor) ---Identification of SRY derived DNA maybe important in research analysis of specimens obtained from individuals with Turner syndrome , Infertility or Ambiguous genitalia , 46,XX males , or individuals with Y ; autosome translocations or other chromosome abnormalities involving the Y chromosome

· study variation of Turner syndrome with abnormal mosaic forms.

· Study abnormal male karyotype with different mosaic forms

· Recognition of Sex reverse ( XX Males and XYfemales)

MICRODELETIONS

FISH Techniques recognize deletions in :

§ Cri-du-chat syndrome ( 5p15.2 )

§ Williams syndrome The elastin gene locus ( 7q11.23)

§ Prader willi / Angelman syndrome ( 15q11-13 )

§ CATCH 22 region including: Di-george syndrome, velocardiofacial syndrome, Kenny caffey ,CHARGE Association

§ Steroid sulfatase defeciancy ( X-linked Ichthyosis ) ( Xp22.3)

§ Kallamann' s syndrome ( Xp22.3)

§ Miller-dicker syndrome( MDS) lissercephaly syndrome type 1( 17p13)

§ Aligile syndrome ( 20p12)

ONCOLOGY

FISH Techniques detect deletions in :

CANCERS

· Breast , Ovarian and other cancers ( HER-2 Amplification ) ( 17q11.2-q12)

· Some human tumers and Ovarian , gastric, coloectal Cervical and Protrate cancers and various lymphomas ( c-myc Amplification ) ( 8q24.2-q24.3)

· Breast tumers ( 20q13.2 Amplification )

· Breast carcinoma , esophageal , squamous cell carcinoma of the head and neck[ SCCHN] and bladder ( Cyclin D1)( 11q13 ).

· Many cancers including cervical , colorectal , gastric bladder , breast and prostate ( p53 deletions)

· Neuroblastomas (N-myc Amplification )( 2p23-p24)

· Prostate cancer ( androgen receptor amplification) ( Xq12)

HEMATOLOGIC CANCER

FISH Techniques distinguish deletions in :

· B-cell chronic lymphocytic leukemia ( CLL ) (Trisomy 12 )

· Childhood B-cell acute lymphocytic leukemia ( 12/21 Traslocation )

· Myeloid disorders ( such as 5q- syndrome , MDS, therapy- related MDS AML , and de novo AML ) ( 5/7/12p/ 17p/21q /11q23 chromosomal aberrations )

· Retinoblastoma ( 13q14)

· Myelodysplastic syndromes and other hematopoietic disorders ( 7q31)

· Myeloproliferative disorders and myelodysplastic syndromes. ( 20q deletions )

· Some cases of acute lymphocytic leukemia( ALL)(Philadelphia chromosome)

· Acute Promylocytic Leukemia ( AML-M3 or APL ) ( 15/17 Translocations)

§ myeloid blast crisis and basophilia .

§ chronic myelogenous leukemia ( CML )

§ acute myeloid leukemia( AML )

§ myeloproliferative disorders( MPD)

§ myelodysplastic syndrome ( MDS)

§ other hematologic disorders ( including hyperproliferative states such as polycythemia vera , leukemoid reaction , lymphoproliferative disorders , or chronic lymphocytic leukemia)

v Fish Technique can be used as an adjunct to standard karotyping to evaluate engrafment in recipients of sex mismatched bone marrow trasplantation by determining the proportion of XX and XY donor cells.

FISH Techniques can distinguish diseases and syndromes such as :

Salt loosing syndrome

Charcot-marine-tooth disease

Autistic behaviour

Rubinstein syndrome