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How To Get Your Child Tested For Krabbe

Initial Krabee disease testing/screening for a child can be somewhat confusing, however it shouldn’t be.  The following information is geared towards parents who have already given birth to a child and want to move forward with testing. Krabbe disease is rare, so majority of people helping you will have to dig for the answers. My goal is to help you find the answers quickly. The test I am outlining is the initial biochemical screening listed as “Lysosomal Enzyme Screen/Krabbe’s”. It determines whether someone currently has the disease or will potentially have it in the future. This test does not determine if you are a carrier of the abnormal gene. That would be done at another facility and I have no experience in that arena. I have included some information on my personal experiences and a few pointers to quickly guide most people through the process of getting screened for Krabbe.

1) Krabbe is screened via a blood test.

2) The blood is collected at local lab and then overnighted to Thomas Jefferson University.

3)  Thomas Jefferson University or TJU in Philadelphia PA is one of the few facilities that I could find that test for Krabbe. I highly recommend this specific facility. Dr David Wegner and his staff are extremely helpful and have a wonderful website to help guide you.

http://www.jefferson.edu/university/jmc/departments/neurology

4) Thomas Jefferson University has two forms as of June 2017 that need to be filled out before the blood is shipped. I have always had my pediatrician fill out the Clinical History Form, and I filled out the Bill Payment Form. Get these done right away.

5)  Thomas Jefferson University will not test without payment. Make sure to include payment information via the Bill Payment Form. Always include a cell number on the Bill Payment Form in case something goes wrong with your credit card. These will need to be included with the blood sample.

6) Initial steps in getting blood sample collected at a local lab or facility

      – Call your local blood lab and make an appointment, don’t walk in.

      – Make the appointment early so they collection facility has time to get the paperwork right

      – Explain that you need a Krabbe test and they will have no idea what you are talking about.

      – Explain Krabee is a rare disease and you need to have blood drawn from your child and then shipped immediately to TJU.

      – Explain that there are special directions for shipping the sample. I highly recommend you reiterate this.

      – They will ask you if you want to ship it yourself or if you have a kit for the blood test. Tell them no on both accounts.

      – The collection lab might try and send it to their own lab. Explain that it needs to go to Thomas Jefferson.

      – Ask if they are equipped to take blood from a newborn/infant. I believe majority of places are.

      – Print out and bring in TJU shipping directions and address. Put the TJU web link above in your phone in case you need it.

      – Bring in a copy of your Clinical History Form and Bill Payment Form to the facility.

7) Shipping instructions are what gets screwed up at the local lab. Print them and take them to the blood draw.

http://www.jefferson.edu/university/jmc/departments/neurology/programs/

8) Don’t do blood work on Friday or near a holiday. If the blood isn’t overnighted, you’re wasting time and money.

9) The screening of Krabbe wasn’t covered by my insurance. Everyone’s plan is different.

10) The Krabbe screening costs about $350 to do the test out of pocket.

     – $50 for blood collection and overnight shipping. (paid at blood draw)

     – $300 for the Krabbe screening at TJU

11) Results take about a week

12) Your results can be delivered to you or your pediatrician. You will receive a print out including a few numbers. These will indicate if your child’s enzymes fall into the normal range. Here is more detailed info about the results.

13) The most complicated part of this initial process is making sure the person at your blood lab follows the instructions correctly on collection, storage and shipping. I had two of my children tested and one of the two was completely botched by the blood lab. I highly recommend printing out all important information on the Thomas Jefferson University website and handing it to the blood lab before the blood draw.

14) Keep in mind that both mom and dad need to be carriers of the abnormal gene to potentially give a child Krabbe.

15) A few resources regarding Krabbe info

http://www.huntershope.org

http://www.healthline.com/health/krabbe-disease#symptoms2

  • I have no association with Thomas Jefferson University whatsoever. This is 100% based on personal experience.

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