Page 27 - SRL Diagnostics

UTILITY OF CYTOGENETIC TESTING
Prenatal Diagnosis PND-Indications
Advanced maternal age Page 12
High risk result on maternal serum screening tests
Abnormal sonological findings
History of previous abnormal child
Parent with a known balanced translocation of chromosomes

Postnatal Cytogenetic testing-Indications
Chromosomal
Clinical manifestation/Indication abnormality detectable Karyotyping FISH
Sex chromosome
Amenorrhoea/ Ambiguous Genitalia abnormalities, Sex reversal Yes Yes
Balanced chromosomal
Spontaneous abortions rearrangements Yes Not feasible Page 22 Page 26
Total Infertility Male factor mediated Y Yes No
microdeletions
Pediatric Cases: Down’s Syndrome, Klinfilter’s, Aneuploidy Yes Yes
Edward’s, etc.
Mental retardation (e.g. Prader willli’s Submicroscopic deletion/ Not below Yes
syndrome) duplication 550 bphs
Congenital malformations in neonates and in Unbalanced chromosome Yes Yes
POC rearrangements
Behavioral disorders, learning disabilities Fragile X chromosome Yes No

Oncology Test-Indications
Underlying Chromosomal Test Utility
Clinical Manifestations Abnormality Karyotyping FISH
Acute Myeloid Leukemia AML-EtO – t(8:21) (q22: q22) Screening Confirmatory
Chronic Myeloid Leukemia BCR/ABL – t (9:22) (q34: q11.2) Screening Confirmatory
Myeloid malignancies/Myeloma DEL 13q Screening Confirmatory

Pro Myelocytic Leukemia PML/RARA –t (IS; 17) (q22; q 21.1) Screening Confirmatory
Acute Non lymphocytic Leukemia & Inv(16) Screening Confirmatory
treatment related leukemia
Chromosomal rearrangements Screening Confirmatory
Myelo dysplastic Syndrome of 5, 7,8 & 20
Acute Lymphocytic and Acute Myeloid MLL 11q rearrangement Screening Confirmatory
Leukemias
Lymphoma/Myelomas 14 Q32/ IGH gene rearrangement Screening Confirmatory
EGFR amplification Screening Confirmatory
Breast Cancer HER2/neu Screening Confirmatory

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