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Test Code Congenital Sucrase-Isomaltase Deficiency Congenital Sucrase-Isomaltase Deficiency

Department

APH Peds Specialty Lab

Specimen Type

Cheek/Buccal Swabs,

Disaccharidase Assay Remnant (DAR),

Formalin fixed paraffin embedded tissue (FFPE),

Biopsy tissues, 

Method

Next Generation Sequencing (NGS)

Container

Cheek/Buccal Swabs-Flocked or Foam Tipped Swabs in a sterile tube

Biopsies in sterile screw cap tube (5mL)

FFPE sections (8-12) are placed in 2mL sterile screw capped tubes

Standard Volume

Swabs: 2 Cheek/Buccal Swabs-Flocked or Foam Tipped Swabs in a sterile tube

DAR: 180 uL or preferably more

FFPE Tissue blocks: No less than 8 FFPE tissue (punch biopsy) sections of 40-micron thickness per section, per patient.

Biopsy: 2 biopsies (about 2 mm diameter/each punch biopsy)

Minimum Volume

Swabs: 1 Cheek/Buccal Swab-Flocked or Foam Tipped Swab in a sterile tube

DAR: 100 uL

FFPE Tissue Blocks: 6 tissue sections, 40 microns thickness per section, per patient. If an entire FFPE Tissue block is available, then the lab will accept the entire tissue block. 

Biopsies: 1 biopsy(about 2mm diameter/each punch biopsy)

Pediatric Volume

N/A

Ship Temperature

Depends on specimen type. 

 Cheek/Buccal Swabs and FFPE may be shipped at room temp, refrigerated or frozen on dry ice via overnight or 2 day delivery. FFPE must be packed in a properly sealed container so they do not get wet. 

DAR and Biopsy Tissue samples must be shipped frozen on dry ice via overnight or 2 day delivery. 

Stability Refrigerated

Cheek/buccal Swabs: 7 Days

DAR: N/A

Cut FFPE Tissue: 48 Hours

Biopsy Tissues: N/A

Stability Room Temp

Cheek/Buccal Swabs: 2 Days

DAR: N/A

 Cut FFPE: 24 Hours

Uncut FFPE Tissue Block: 10 Years

Biopsy Tissues: N/A

CPT Code

81479

Days Test Set Up

24 Samples are required for each batched run. Current Turn Around Time is 6 to 12 Weeks. 

Note: If the sample numbers are less than the required sample numbers (n=24) for one batch of NGS run then the lab will decide on action plan, and the lab will notify the clinical provider of the patient for mutually acceptable actions. 

Group Components

The entire coding sequence or the exons of human Sucras-Isomaltase(SI) gene (Gene ID: 6476) for CSID genetic test by NGS

Stability Frozen -80 Degrees C

Cheek/Buccal Swabs: 5 Years

DAR: 5 Years

Cut or Uncut FFPE Tissue: 10 Years

Biopsy Tissues: 10 Years