 |
Institute of Metabolic Disease at Baylor Research Institute
 |
DNA Analysis for Diabetes type I by INS Gene Sequencing
Type1 Diabetes is a heterogeneous group of metabolic diseases characterized by high blood glucose levels that can present at any age, from birth to old age. Genetic factors play an important role in the development of diabetes with some forms resulting from mutations in a single gene. Insulin gene (INS) mutations affect the insulin structure and as a cause of permanent neonatal diabetes (ND). Spontaneous mutations are common in ND. Genetic testing for Type 1 Diabetes is performed by screening for mutations via direct DNA sequencing. The entire gene coding regions and all exon/intron junction fragments of the Insulin gene are amplified from patient's genomic DNA by use of specific intronic primers. The corresponding PCR product templates are purified. Bi-directional sequencing of PCR products is performed on an ABI Prism 3100 DNA Sequencer (PE Applied Biosystems). This procedure will also be utilized for detection of known mutation by individual exon sequence analysis of the Insulin gene.
References: Molven A, Ringdal M, Nordbø AM, Raeder H, Støy J, Lipkind GM, Steiner DF, Philipson LH, Bergmann I, Aarskog D, Undlien DE, Joner G, Søvik O; Norwegian Childhood Diabetes Study Group, Bell GI, Njølstad PR. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 2008 Apr 57(4):1131-5.
Download Test Requisition
Department: Molecular Diagnostics
Methodology: Polymerase Chain Reaction (PCR) to amplify all of exons of gene and direct sequencing by Applied Biosystems sequencer 3100
Sample:
• Whole Blood (preferred) - 6 mL of whole blood collected in an EDTA (lavender top) or an ACD (yellow top) tube. For the ACD tube, solution A is preferred. Minimum sample volume - 3 mL
• Dried blood spot card - 3 to 5 completely filled spots
• Fibroblasts - 2 confluent T-25 flasks
Special Note: Contact the Molecular Diagnostics Laboratory Director prior to submitting a sample.
FOR KNOWN MUTATION ANALYSIS - indicate the mutation(s) on the test requisition; additionally, submit supporting documentation of the characterization of the mutation.
Shipping/Handling: Ship all sample types at room temperature using a guaranteed overnight courier.
CPT code: 83890
83891 x 3
83892
83894 x 3
83898 x 3
83904 x 3
83909 x 3
83912
Turnaround Time: 4 - 8 weeks
Cost:
Sequencing: $750.00
Individual mutation(s): $250.00 per mutation
Related Tests: Contact the lab for more information
|
|
Baylor Intranet | 
Baylor Portal