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Test Code NEO DIAB Neonatal Diabetes Panel

Clinical System Name

Neonatal Diabetes Sequencing Panel Request

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 23 genes: ABCC8, EIF2AK3, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1B, IER3IP1, INS, INS-IGF2, 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 

Clinical Utility

Clinical features of NDM 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.
 


 

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: Saliva collected using Oragene Dx OGD-575/675 collection kit.

Container: Oragene Dx OGD-575/675 collection kit

IMPORTANT NOTE: Manufacturer instructions must be followed. The Oragene Dx OGD575/675 kit is not for children under 6 months. Contact the lab directly for more information or to obtain a kit - 206-987-2617

 

Specimen: Extracted DNA from EDTA blood

Minimum: 10µg

Note: Isolation of nucleic acids for clinical testing must be performed in a CLIA-certified
laboratory or a laboratory meeting equivalent requirements as determined by the CAP
and/or the CMS. DNA concentration minimum 50 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

Saliva, extracted from ORAgene Dx OGD-575/675

Room temp days
Extracted DNA Frozen years

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. Variants are not reported if they are considered benign.

Methodology

Method: Next Generation Sequencing technology using an Illumina NextSeq instrument. Target region includes coding exons and a minimum of 10 bp of flanking intron boundaries of the genes tested. Target enrichment performed using a custom Integrated DNA Technologies (IDT) panel.

 

Average coverage >1,000x, depth of coverage for all target regions is at least 20x.

 

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