Test Description

We offer an MLPA-based test (multiplex ligation-dependent probe amplification) to detect genomic rearrangements in the dystonia gene GTP cyclohydrolase 1 (GCH1). In addition to point mutations and small ins/del, large exonic rearrangements have been reported in several genes responsible for dystonia. This test can detect deletions/duplications in 5 of the 6 exons for GCH1. Exons not covered by this test include exon 4 of the GCH1 gene.

Sample Preparation: Sample Preparation (PDF)


Results of DNA analysis will be communicated in a written report to the referring professional.


This test would be appropriate for patients who have previously had sequence analysis performed for the GCH1 gene but no sequence variation was found. MLPA is also available to offspring and siblings when the DNA rearrangement has been identified in the affected family member. Prenatal testing is also available.

Note: If our laboratory previously tested this person’s DNA, please contact us and ask if we still have sufficient DNA to complete the additional MLPA analysis.


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