Sign in →

Test Code MODY SEQ MODY Sequencing Panel

Clinical System Name

MODY Sequencing Panel Request

Description

Main features of MODY patients include the following: 1) Hyperglycemia usually diagnosed before age 25 years in at least 1 family member. 2) Autosomal dominant inheritance through at least 3 generations, and a phenotype shared by diabetic family members. 3) Absence of insulin therapy or significant C-peptide levels even in a patient on insulin treatment for several years after diagnosis.

 

Our expanded MODY panel, includes sequencing of the following 13 genes and an estimated detection rate of greater than 90% of individuals with MODY: ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1.  

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

81407, 81404 (x2), 81405 (x2),81406 (x2), 81403, 81479  (11/7/16 updated JN)

Special Instructions

Links to: DiabetesGenes.org

Requisition

Molecular Genetics

Clinical Utility

Maturity-Onset Diabetes of the Young (MODY) is an autosomal dominant form of diabetes typically occurring before age 25 and caused by a primary insulin secretion defect. MODY is not a single entity but represents nine classifications with genetic, metabolic, and clinical heterogeneity. MODY is estimated to affect approximately 1-2% of people with diabetes, although this may be an underestimate since the genetic etiology of this type of diabetes often goes undiagnosed.

Main features of MODY patients include the following: 1) Hyperglycemia usually diagnosed before age 25 years in at least 1 family member. 2) Autosomal dominant inheritance through at least 3 generations, and a phenotype shared by diabetic family members. 3) Absence of insulin therapy or significant C-peptide levels even in a patient on insulin treatment for several years after diagnosis.

 

 

Genes Estimated percentage of individuals with MODY Phenotype
HNF1A 20-50%
GCK 20-50%
HNF4A 5%
HNF1B 5%
ABCC8 3%
BLK, CEL, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1 <1% for each gene