Genetic Services

About Us

Cytogenetics Laboratory

Fetal Care and Genetics Center

Genetic Counseling

Molecular Genetics Laboratory

Parentage Testing

Tests

Chromosomal Analysis

DNA Analysis

FISH

Where to Send Specimens

The Cytogenetic Laboratory is currently offering FISH analysis for the following disorders. Each test in the menu includes information on indications for testing, assay methodology, specimen requirements, transport and shipping instructions, and billing codes. All specimens submitted for analysis should be accompanied by the UCSD Medical Genetics Test Requisition Form.

CONSTITUTIONAL STUDIES

• 1p36 Microdeletion syndrome
• Angelman syndrome
• Cri du Chat syndrome
• DiGeorge/VCFS syndrome
• Fetal Aneuploidy Screen
• Miller-Dieker syndrome
• Prader-Willi syndrome
• Smith-Magenis syndrome
• STS/Kallman syndrome
• Williams syndrome
• Wolf-Hirschhorn syndrome

ONCOLOGY STUDIES

• BCL6 Flanking probes - 3q27
• BCR/ABL Fusion – t(9;22)
• CBFB – inversion 16
• CCND/IGH Fusion – t(11;14)
• CHOP Flanking probes – 12q13
• CLL Ppanel
• FIP1L1/PDGFRA Fusion – 4q12
• IGH/BCL2 Fusion – t(14;18)
• IGH/FGFR3 Fusion – t(4;11)
• IGH/MAF Fusion – t(4;16)
• IGH/MALT1 Fusion – t(14;18)
• MDS Panel
• MLL Flanking probes (11q23)
• MYC Flanking probes (8q24)
• Myeloma Panel
• TEL/AML Fusion – t(12;21)
• XX/XY Sex Mismatch