The MGZ provides RNA analysis from lymphocyte cultures followed by long read sequence analysis with or without enrichment by sample capture.

INDICATIONS
Assessment of variants of unclear significance affecting mRNA splicing, with assessment of allele-specific expression where appropriate. This is, for example, relevant for
• the detection of fusion transcripts due to structural variants or
• the identification of exon skipping and alternative polyadenylation in splice variants.

METHOD
Long-read sequencing

SAMPLE REQUIREMENTS
• Heparin blood
• PAX blood sample

 

PRICE INQUIRIES & TEST ORDERING

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