Test Directory

Genes tested: ABCC8 *; APPL1 ; CEL *; EIF2AK3 ; FOXP3 ; GATA4 ; GATA6 ; GCK ; HNF1A ; HNF1B ; HNF4A ; INS ; KCNJ11 ; NEUROD1 ; NEUROG3 ; PDX1 ; RFX6 ; SLC19A2 ; WFS1 ; ZFP57

*One or more exons are not covered by sequencing for the indicated gene; see limitations.

Use to confirm a diagnosis of maturity-onset diabetes of the young (MODY) or neonatal diabetes (ND) in a symptomatic individual. Use as predictive diagnostic or carrier testing in individuals with a family history of MODY or ND.

Specimen Type: Whole Blood

Collection Container: Pale Yellow Top (ACD solution A or B)

Alternate Collection Container: Lavender Top (EDTA)

Desired Specimen Volume: 3 mL

1. Collect a pale-yellow top (ACD solution A or B) via venipuncture.

1. Transport 3 mL of whole blood in the original collection container.
2. Submit a MODY and Neonatal Diabetes Patient History Form for appropriate result interpretation.

Transport to the laboratory refrigerated.

• Grossly hemolyzed

See patient report.

A negative result does not exclude a diagnosis of MODY or ND.

Diagnostic errors can occur due to rare sequence variations.

Interpretation of the test result may be impacted if the patient has had an allogeneic stem cell transplantation.

The following will not be evaluated:

• Variants outside the coding regions and intron-exon boundaries of targeted genes
• Most regulatory region and deep intronic variants
• Noncoding transcripts
• The following exons are not sequenced due to technical limitations of the assay:
  • CEL (NM_001807) 1, 8, 9, 11
  • ABCC8 (NM_001351295) partial exon 14 (Chr11:17449973-17450018)
• The following may not be detected:
  • Deletions/duplications/insertions of any size by massively parallel sequencing
  • Some variants due to technical limitations in the presence of pseudogenes, repetitive, or homologous regions
  • Low-level somatic variants

• MODY and Neonatal Diabetes Panel, Sequencing