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FISH, Miller-Dieker
Test CodeCPT Codes
88271, 88273
Physician Attestation of Informed Consent
Preferred Specimen
Minimum Volume
Other Acceptable Specimens
Instructions
Transport Temperature
Specimen Stability
Methodology
Fluorescence in situ Hybridization (FISH)
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Daily; Report available: 5-7 days
Clinical Significance
This test uses fluorescence in situ hybridization (FISH) to detect microdeletions in chromosome 17p13.3 in individuals with clinically suspected Miller-Dieker syndrome (MDS). MDS is a developmental disorder characterized by distinct facial features along with a combination of neurologic findings, including "classic lissencephaly" (or smooth brain), seizures, developmental delay, and intellectual disability [1].
Individuals with MDS may also have abnormalities in the heart and kidneys as well as omphalocele. Prognosis for MDS is poor; most children with MDS die before 2 years of age [1,2].
This test detects the loss of PAFAH1B1, one of the genes that are associated with the clinical manifestations of MDS. Since similar clinical syndromes can be caused by pathogenic variants in PAFAH1B1, tests such as chromosomal microarray and gene sequencing may find abnormalities even if FISH does not.
The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.
References
1. Brock S, et al. PAFAH1B1-related lissencephaly/subcortical band heterotopia. In: Adam MP, et al., ed. GeneReviews®. University of Washington; March 3, 2009. Accessed September 30, 2021. https://www.ncbi.nlm.nih.gov/books/NBK5189
2. Blazejewski SM, et al. Front Genet. 2018;9:80.