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• Alphabetical test catalog
• Cytogenetic Testing
• Maternal Serum Screening
• Molecular Genetics (DNA) Testing
• Drug Metabolizing Enzymes (Pharmagenetic) Testing
• Disease/Disorder

Cytogenetic Testing

Chromosome Analysis from:
Amniotic fluid

Chorionic Villus sample

Fetal tissue (products of conception)

Bone Marrow

Peripheral Blood

FISH Analysis:
Direct Interphase FISH for Aneuploidy for 13, 18, 21, X, and Y (Aneuvysion)

HER2/neu FISH on fixed tissue section

Hematopathology FISH on interphase nuclei

• BCR/ABL t(9;22)
• PML/RARA t(15;17)
• EGR 1/CSFIR 5q deletion
• D13S25/D13S319 13q deletion/monosomy 13
• CEP 12 (trisomy 12)
• CEP 8 (trisomy 8)
• CEPX/Y (donor sex (BMT))
• D20qS108 (20q deletion
• ALK t(2;5)
• TEL/AML 1 t(12;21)
• P53 17p
• N-myc 2p
• C-myc 8q
• 11q23 (rearrangements of 11q23)

Microdeletion FISH on metaphase cells

• Wolf-Hirschhorn (4p16)
• Cri du Chat (5p15)
• Williams (7q11.23)
• Retinoblastoma (13q14)
• Angelman Syndrome
• Prader-Willi Syndrome
• Miller-Dieker (17p13.3)
• Smith-Magenis (17p11.2)
• DiGeorge/VCFS (22q11.21-q11.23)
• X-linked ichthyosis (Xp22.3)
• Kallman Syndrome (Xp22.3)
• Sex determining Y (Yp11.3)