Maturity-onset diabetes of the young (MODY)

Maturity-onset diabetes of the young (MODY) is an inherited form of diabetes that, overall, affects 1-2% of individuals with diabetes. Many people with MODY are misdiagnosed with type 1 or type 2 diabetes, and establishing a diagnosis of MODY greatly impacts clinical management.
Quick Reference
Test Code 8310
Turnaround Time (TAT) 4-5 weeks
Number of Genes 5

Ordering Options

We now offer single site analysis (SSA) at no additional cost to family members

following single gene or panel testing* of the first family member (proband) within 90 days of the original Ambry report date.

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*excludes Exome and SNP Array tests

Test Description

Our MODY panel includes Next Generation Sequencing (NGS) and deletion/duplication analysis of  HNF1A, HNF4A, HNF1B, GCK and PDX1.  Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes and is followed by polymerase chain reaction (PCR) and Next Generation Sequencing. Additional Sanger sequencing is performed for any regions missing, or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.This test targets detection of DNA sequence mutations in all coding domains, and well into the 5’ and 3’ ends of all the introns and untranslated regions. Gross deletion/duplication analysis is performed using a custom pipeline based on read-depth from NGS data and/or targeted chromosomal microarray with confirmatory MLPA when applicable.

 

1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

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