Does your child have variants of uncertain significance on the UGDH gene?

Does your child have variants of uncertain significance on the UGDH gene?
Good news: the scientific team supporting The UGDH Foundation can review your child's variants! If needed, the team can then arrange a laboratory investigation to gather information on whether the variants are benign or pathogenic. This process is called functional testing.
If functional testing is recommended, the entire process may take 8-12 months.
Then, the results would be shared with your child's primary care physician, neurologist, or geneticist. (Please note: in some cases, variants will not be good candidates for functional testing.)
Here's how to take advantage of this opportunity.
1) Complete the form below. You will need to upload your child's genetic report. (If you don't know how to find it, let us know: contact@ugdh.org)

2) The UGDH Foundation will share the information you submit with our advising clinicians.

3) If the variants are good candidates for functional testing, you will be contacted by Laina Lusk, a genetic counselor at the Children's Hospital of Philadelphia.

4) Laina will
- confirm your child's information,
- request a recent clinic note describing your child's medical history,
- explain next steps, and
- request additional consent to proceed with functional testing.
5) If you consent to proceed, Laina will begin communicating with your child's PCP or geneticist.

6) The functional testing may take 8-12 months, but we can't guarantee when it will be complete. Our team will provide updates along the way.

7) Once complete, the results will be shared with your child's PCP, neurologist, or geneticist, who can then discuss them with you.
Name of Parent or Guardian

First NameLast Name
Email
example@example.com
Phone Number

Country CodeArea CodePhone Number
Name of Child with UGDH Variants

First NameLast Name
Child's Date of Birth

MonthDayYear
Date
Child's Primary Care Physician OR Neurologist

First NameLast Name
Phone Number for Child's Primary Care Physician OR Neurologist

Country CodeArea CodePhone Number
Child's Geneticist OR Genetic Counselor

First NameLast Name
Phone Number for Child's Geneticist OR Genetic Counselor

Country CodeArea CodePhone Number
Upload Your Child's Genetic Report Showing UGDH Variants. Please include all pages of the report.

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By signing below, you consent to sharing the above information with The UGDH Foundation and advising clinicians. You also confirm that you have read and understand the process described on this form.
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Does your child have variants of uncertain significance on the UGDH gene?

If functional testing is recommended, the entire process may take 8-12 months.

Here's how to take advantage of this opportunity.