Pathology Info & Referral : PediCODE

Pathology Info & Referral

Pathology Case Review

Evaluation of intestinal pathology is a key aspect in the diagnosis of a CODE disorder. For examples of pathology from CODE disorders please browse the CODE Tissue Atlas {link]. Pathologists at PediCODE Consortium Centers have expertise with intestinal pathology from CODE patients and are able to help with review of CODE pathology features and recommendations for special staining as well as formal consultative review of biopsies.

In addition, as part of our CODE Tissue Atlas we are carrying out multiplex immunofluorescence staining of paraffin sections as well as collating stained histological images from CODE patients with a confirmed genetic diagnosis. We welcome and encourage physicians and researchers to participate and collaborate in this community resource with any pathology specimens, or histopathology and immunofluorescence sections.

Please contact Consortium Pathology Directors for further information about CODE pathology review and referral:

Boston Children’s Hospital: Jeffrey Goldsmith (Jeffrey.Goldsmith@childrens.harvard.edu)

SickKids: Iram Siddiqui (iram.siddiqui@sickkids.ca)

UCLA: Bita Naini (BNaini@mednet.ucla.edu)

Vanderbilt: Hernan Correa (hernan.correa@vumc.org)

For Pathology Consultation

If you are a physician and you would like a consultative review of pathology performed and diagnosed at your institution, please carry out the following:

Identify and contact the Pathology Lead at a PediCODE consortium center (see above)

Fill out an initial Pathology Referral Form. Once reviewed the center will send further details on the consultation process including shipping details which will require the following:

Glass slides, either stained or unstained. Paraffin blocks, epon-embedded tissues for electron microscopy, electron micrographs, frozen tissues, fixed tissues, and fluids may also be submitted for special studies or if required for accurate diagnosis.
A copy of the referring pathologist’s final report, or at least a preliminary report. If the case has been previously seen by other consultants, copies of those reports should also be included.
A letter from the referring physician or pathologist which gives a brief clinical history, identifies the slides and/or blocks by accession number, and identifies of the tissue source for each accession number.
Additional studies, including laboratory data, radiology studies, etc., should be submitted if essential for accurate diagnosis.

Sending Specimens For The CODE Atlas

Patients will need to be enrolled in our Biorepository and images and slides de-identified prior to sending and including in the CODE Tissue Atlas.

To send already stained pathology images or slides for the Tissue Atlas please initially contact Jay Thiagarajah

To send unstained tissue / slides for Multiplex immunofluorescence (MxIF) please contact Jim Goldenring

PediCODE research coordinators will reach out to help enroll patients and arrange sending of materials. Please see below for instructions for sending pathology material

How to send materials

All materials sent by either standard or express mail must be protected from damage by using proper packaging.

It is recommended that glass slides be enclosed in plastic slide boxes (available in most laboratories) which hold up to five slides each.
Excess space in the box under the lid should be filled with cotton gauze or tissue paper, to avoid breakage due to shaking.
The lid of the box should be taped closed.
Slide boxes should be surrounded by the relevant pathology reports and/or referral letter), enclosed in a rigid mailing container (either a cardboard box or rigid screw-cap mailing tube), and the space around the materials filled with padding (gauze, paper, or Styrofoam).
It is suggested that all materials related to the case by shipped in the same container, so that they are received together.
Frozen tissues should be sent by express mail in dry ice.

The envelope, box or cylinder should be tightly closed and sealed with tape. The mailing label should include a return address as well as the name of the referring clinician or pathologist.

Material sent by express mail or from outside the U.S. usually requires identification of the contents. A sample label might read:

Glass slides of Human Tissue for Diagnosis
Non-Infectious
Non-Hazardous
No Commercial Value

Some carriers, such as DHL, may additionally require identification of the body part, e.g., skin.

For questions for proper shipment of specimens other than those described above, please contact the carrier, or PediCODE center staff.

All original materials will be returned to the referring site on completion of our studies. We will retain any additional slides that we have prepared in our laboratories. A copy of our diagnosis will be sent to the referring physician.