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1. General information

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Name of the person who fills out the form

Patient information

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Based on evaluation through the Undiagnosed Diseases Program (UDP), an underlying cause for 's signs and symptoms has unfortunately not been identified. This does not exclude a genetic cause for 's condition.

2. Main signs/symptoms

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HELP: Drag and drop the affected areas in order of importance, then click on the checkbox to add the signs/symptoms referring to each area.

3. Evaluations

Enter previous key evaluations and family history.

Previous key evaluations

As came into the UDP, a unifying diagnosis had not been made despite extensive evaluations that included the following key investigations:

Family History

A three-generation family history shows the following:

4. Test Results and Discussion

Your conclusions regarding the patient

The evaluation for focused on the following specific signs/symptoms:

Whole Genome sequencing

As is always the case in whole genome sequencing, the laboratory identified findings for discussion. The lab looked for spelling changes in the DNA (known as sequence variants) and for stretches of DNA that were missing or extra (i.e. copy number variants or CNV). At this point in time however, results do not point to a clear underlying genetic diagnosis.
You may recall that we have over 20,000 genes in our body and each gene has a very specific job. To do that job, our genes make proteins that make everything in the body work, grow and function properly. A gene is made up of a long string of many letters (A, C, G and T) that act as an instruction manual for how to make a specific protein. If there are any spelling mistakes in that instruction manual (called a variant), it can cause the gene to make either an abnormal protein or no protein at all, which can cause genetic conditions. Sequencing is the process where the lab reads through the letters of a gene and looks for any changes that may affect how the gene works.

The full genome report is now available and attached.

Some variants of uncertain significance were detected but after our team's discussion, we agreed that there is currently not enough evidence to suggest that these changes explain 's findings. However, we list them below for future reference, as knowledge about the function of genes keeps improving.

The lab did not identify any other disease-causing changes in the genes defined as medically actionable by the American College of Medical Genetics.
Home (acmg.net)
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Summary of integrated clinical and genetic assessment

What we knew as came into the program:

What this additional team evaluation has added:

Recommendations:

5. Future actions

Actions to take in the future

What now and what next

Using some of the most advanced tools available to genetics, the evaluations so far have not identified a conclusive genetic diagnosis that explains 's signs and symptoms. However, as clinical knowledge and genetic technology continue to expand, there is still hope for a diagnosis by re-assessing the findings and perhaps retesting in the future with still more comprehensive techniques.
Regular follow-up with a clinical genetics service is recommended about every two years to track signs/symptoms, review previous results and consider any new information.
In closing, we hope you will feel that this evaluation has had some benefits for yourself and your family although the continued lack of diagnosis can be disappointing. Specifically, the evaluation excluded a large number of known conditions, and in doing so can help avoid some unnecessary and possibly burdensome testing and exams that might have been done otherwise.

6. Addendum

Other relevant information.

Additional findings from Whole Genome Sequencing

Variants of uncertain significance:

The lab identified a few genetic changes unrelated to 's presentation, but which may increase the risk for some late-onset conditions.

has a few differences called 'pharmacogenetic variants', which may influence the way they respond to certain medications. These are the specific variants detected:

The lab did not identify any other disease-causing changes in the genes defined as medically actionable by the American College of Medical Genetics.

The Food and Drug Administration (FDA) regularly updates a list showing possible interactions between specific variants and medications. 's health care providers may find this information useful if certain medications are required in the future . Please refer to Table of Pharmacogenetic Associations published by FDA:
https://www.fda.gov/medical-devices/precision-medicine/table-pharmacogenetic-associations

Resource and support links

Many children and adults remain without a diagnosis despite multiple assessments and investigations. General resources can help with many aspects of daily life as well as moving forward, even without an identified cause for signs/symptoms.

Add your own links, edit or provide the examples below from the UDNI Genetic Counseling Resource library.

Family wellbeing
Rare and Undiagnosed diseases information and support

For more information and support resources, click here to go to the UDNI No Diagnosis Resource Roadmap.

Thank you!

UDNI and Undiagnosed Diseases Program participation

Thank you for sharing your story and letting us be part of your journey. Please don't hesitate to contact us if you have any further questions.