Orphanet: Molekulare Diagnostik des isolierten kongenitalen Hyperinsulinismus ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, KCNJ11 und UCP2 Gen
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Molecular diagnosis of congenital isolated hyperinsulinism (ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, KCNJ11, and UCP2 genes)

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Last update: November 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
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