DIATHEVA - Biomanufacturing of innovative diagnostics and reagents

LMNA gene amplification kit for direct sequencing

The kit is composed of 12 strips, one strip for every patient sample to be tested. The DNA sample must be added in all the 8-vials of a strip. Each vial contains all the reagents and primers necessary for the amplification of a specific LMNA gene region, that comprises one exon and its flanking regions or two exons and the intron included.


Ready-to-use strips for the simultaneous amplification of human LMNA gene exons with modified primers: amplicons can be used for direct sequencing with M13 universal primers.


Diatheva is a member of the "NETWORK ITALIANO LAMINOPATIE" , which is made up of the main italian centers strongly involved in clinical or molecular diagnosis and biomedical research on diseases related to defects of the nuclear lamina.


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Info

The LMNA gene codes for A-type lamins, proteins of nuclear envelope expressed in differentiated cells that are the major proteins lamin A and its smaller splice variant lamin C as well as other minor splice products. Mutations in lamin A and in lamin-binding proteins cause a broad spectrum of inherited human disorders named laminopathies. These pathologies include muscular dystrophy, cardiomyopathy, lipodystrophy, insulin-resistance, diabetes, and premature aging.

Nowadays numerous disease-causing mutations have been associated to LMNA and only in few cases it is possible to link a specific modification with a precise pathology. As a result, direct sequencing of the entire LMNA coding region is the only way to identify all these genetic defects.

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