Health in Code

Maturity-onset diabetes of the young panel (MODY)

Maturity-onset diabetes of the young panel (MODY) [27]

Maturity-onset diabetes of the young panel (MODY) [27]

Maturity-onset diabetes of the young panel (MODY) [27 genes]: It includes all genes associated with MODY (AKT2, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, PTF1A, RFX6, APPL1) and other early-onset forms of diabetes (EIF2AK3, FOXP3, GATA6, GLIS3, IER3IP1, INSIG2, INSR, NEUROG3, SLC2A2, TBC1D4 WFS1).

Adequate coverage for structural variants or CNVs (copy number variants).

Study requisition form

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Informed consent

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AKT2	BLK	CEL	GCK	HNF1A	HNF1B	HNF4A	INS	KCNJ11	KLF11
NEUROD1	PAX4	PDX1	PTF1A	RFX6	APPL1	EIF2AK3	FOXP3	GATA6	GLIS3
IER3IP1	INSIG2	INSR	NEUROG3	SLC2A2	TBC1D4	WFS1

View Dyslipidemias / Early Atherosclerosis Global panel

Maturity-onset diabetes of the young panel (MODY) [27]

Maturity-onset diabetes of the young panel (MODY) [27]

Adequate coverage for structural variants or CNVs (copy number variants).

Study requisition form



Informed consent



View Dyslipidemias / Early Atherosclerosis Global panel

Nota genes

NOTES ON GENES
-> Priority genes: Genes where there is sufficient evidence (clinical and functional) to consider them as associated with the disease; they are included in clinical practice guidelines. -> Secondary genes: Genes related to the disease but with a lower level of evidence
or constituting sporadic cases. -> * Candidate genes: Without sufficient evidence in humans but potentially associated with the disease.

Indication for genetic testing
Guidelines / Task force / Position statement

Indication for genetic testing

Patients with early-onset diabetes (age generally <35 years) presenting with:

Atypical characteristics for type 1 diabetes mellitus including absence of pancreatic islet autoantibodies, evidence for endogen insulin production beyond the “honeymoon period”, measurable C-peptide in the presence of hyperglycemia, low insulin treatment requirements, absence of ketoacidosis in the absence of insulin treatment.
Atypical characteristics for diabetes mellitus type 2 including the following: onset of diabetes before age 45, absence of significant obesity, absence of acanthosis nigricans, normal triglyceride levels, and/or normal or elevated HDL-C.
Mild, stable fasting hyperglycemia not progressing or not noticeably responding to pharmacological therapy.
Extreme sensitivity to sulfonylureas.
Extrapancreatic features (renal, hepatic, gastrointestinal).
Personal or family history of neonatal diabetes or neonatal hypoglycemia.
Family history of diabetes consistent with a dominant autosomal inheritance pattern, contrasting with diabetes types 1 and 2.

Guidelines / Task force / Position statement

Monogenetic diabetes. A guideline for NZ healthcare practitioners. Available on the web site at: http://www.nzssd.org.nz/education/2013%20Monogenic_diabetes_card_with_forms_18%20Dec%20copy.pdf
IDF Clinical Practice Guidelines. International Diabetes Federation. Available on the web site at: http://www.idf.org/sites/default/files/Diabetes-in-Childhood-and-Adolescence-Guidelines.pdf
American Diabetes Association. Standards of Medical Care in Diabetesd2016. Available on the web site at http://care.diabetesjournals.org/content/suppl/2015/12/21/39.Supplement_1.DC2/2016-Standards-of-Care.pdf