Maturity-Onset Diabetes of the Young MODY

Synonyms

Allscripts (AEHR) Order Name

Maturity-Onset Diabetes of the Young

Sunrise Clinical Manager (SCM) Order Name

Maturity-Onset Diabetes of the Young

EPIC Order Name

Maturity-Onset Diabetes of the Young NGS Panel

Clinical Info

Conditions
Maturity-Onset Diabetes of the Young (MODY)
Permanent Neonatal Diabetes (PND)
Clinical Utility
Molecular confirmation of a clinical diagnosis
To assist with decisions about treatment and management of individuals with MODY
Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member

Specimen Type

Blood, Other

Specimen Volume

2-5 mL Blood - Lavender Top Tube

Container

Lavender Top Tube or Buccal (Oral Cheek Swab)

Collection Instructions

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Next-Gen Sequencing
Deletion/Duplication Analysis

Days Performed

Performing Laboratory

GeneDx

CPT

81403x1, 81404x2, 81405x2, 81406x3, 81407x1, 81479x3

PDM

245347

Result Interpretation

Genes

ABCC8, APPL1, BLK, CEL, GCK, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, RFX6, WFS1

Forms


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