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Test Code NEO DIAB Neonatal Diabetes Panel

Clinical System Name

Neonatal Diabetes Sequencing Panel Request

Synonyms

NDM

Description

Neonatal diabetes mellitus (NDM) is a defect of insulin production characterized by the onset of hyperglycemia in the first six months of life.  About half of NDM cases are classified as transient neonatal diabetes mellitus (TNDM), in which the condition disappears during infancy but can reappear later in life. The remaining cases are life-long and are called permanent neonatal diabetes mellitus (PNDM). 

 

The Neonatal Diabetes panel includes DNA sequencing of 22 genes: ABCC8, EIF2AK3, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1B, IER3IP1, INS, KCNJ11, MNX1, NEUROD1, NEUROG3, NKX2-2, PDX1, PTF1A, RFX6, SLC19A2, SLCA2, WFS1, ZFP57

 

Testing is appropriate for:

  • Infants with persistent hyperglycemia ± history of intrauterine growth retardation, osmotic polyuria, severe hydration and failure to thrive.
  • Older individuals with history of the above symptoms
  • Infants with hyperinsulinism 

Sample Requirements

Specimen: Whole blood

Container(s): Lavender/EDTA

Preferred Vol: 3 mL

Minimum Vol: 1 mL

 

Note: Heparin samples (Green tops) are unacceptable.

 

Specimen: Extracted DNA

Minimum: 10µg

Note: DNA concentration minimum 100 µg/mL; 260/280 ratio 1.70-2.00

Processing Instructions

Reject due to: Heparin

Spin: No

Aliquot: No

Temp: Refrigerate

Storage location: Molecular Genetics box in CPA refrigerator #2

 

Off-site collection: Refrigerate blood samples until ready to ship.  Transport all sample types at room temperature via overnight shipping.

Stability

Specimen Type Temperature Time
Whole blood, extracted DNA Room temp 3-5 days
Whole blood, extracted DNA Refrigerated 7 days
Extracted DNA Frozen ok

 

Note: Whole blood samples > 7days may be submitted to be assessed by our lab for acceptability for testing.

Availability

STAT Performed TAT
Contact lab Monday - Friday 4-6 weeks

 

Performing Laboratory

Seattle Children's Laboratory

Department

Department:  Molecular Genetics Laboratory

Phone: 206-987-3872

 

Lab Client Services: 206-987-2617

 

Lab Genetic Counselor: LabGC@seattlechildrens.org

Reference Range

Interpretive report will be provided

Methodology

Method: Next Generation Sequencing technology using an Illumina NextSeq instrument. Target region includes all coding exons and exon/intron boundaries of the genes tested. Target enrichment performed using Agilent SureSelect Focused Exome.   

 

Limitations: This method can detect single nucleotide variants, small deletions,and small insertions. Large deletions and insertions, Copy Number Variants, large duplications, and variants in deep intronic non-coding regions will not be detected.

CPT Codes

Call or email Lab Client Services, (206-987-2617 or labclientservices@seattlechildrens.org) for price and CPT information.

Requisition

Molecular Genetics

Clinical Utility

Neonatal diabetes mellitus (NDM) is a defect of insulin production characterized by the onset of hyperglycemia in the first six months of life. Clinical features include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. It is a rare condition occurring in one of 100,000 to 500,000 live births. About half of NDM cases are classified as transient neonatal diabetes mellitus (TNDM), in which the condition disappears during infancy but can reappear later in life. The remaining cases are life-long and are called permanent neonatal diabetes mellitus (PNDM). Management may be tailored depending on the specific mutations. For example, those with KCNJ11 and ABCC8 mutations can be successfully treated with oral sulfonylureas instead of insulin.

The NDM panel includes DNA sequencing of the following 22 genes: ABCC8, EIF2AK3, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1B, IER3IP1, INS, KCNJ11, MNX1, NEUROD1, NEUROG3, NKX2-2, PDX1, PTF1A, RFX6, SLC19A2, SLCA2, WFS1, ZFP57