Wallach's Interpretation of Diagnostic Tests: Pathways to Arriving at a Clinical Diagnosis (1156 page)

   Cancer-appropriate arrays are also in clinical use.

   Interpretation

   
Normal:
Two copies for all tested sequences in diploid cells

   
Abnormal:
Copy number < or >2

   Limitations

   aCGH
cannot
detect balanced rearrangements that may play a role in repeat pregnancy loss and cancer.

   Interpretation of results is not always straightforward; some detected imbalances may be of no clinical significance. Variant databases are in development.

MOLECULAR GENETIC ANALYSIS (PRENATAL DNA ANALYSIS)
*

   Definition

   Molecular testing on fetal DNA to test directly for specific mutations or to assess closely linked markers for an unknown mutation

   Use

   To assess mutational status for specific inherited diseases

   Typically performed only when parents are affected or known carriers for disease

   Limitations