Chromosomal Microarray Analysis (CMA) & Fluorescence in situ Hybridization (FISH) to determine PD phase

Due to the relatively high frequency of copy number variation (CNV) within PRKN, chromosomal microarray (CMA) is a robust approach for the detection of clinically‐relevant genetic variants resulting in Early Onset Parkinson´s Disease (EOPD). However, CMA seems unable to determine whether CNVs occur on the same allele (cis) or on opposite alleles (trans) necessitating follow up studies. For this reason, Follow‐up fluorescence in situ hybridization (FISH) studies of the proband and parents demonstrate the types of deletions, providing a genetic etiology for the clinical diagnosis of EOPD (1).

Reference

1. Williams E, Barrett M, Dhamija R, Toran L, Chambers C, Mahadevan M et al. Phase determination using chromosomal microarray and fluorescence in situ hybridization in a patient with early onset Parkinson disease and two deletions in PRKN. Molecular Genetics & Genomic Medicine. 2018;6(3):457-462.

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