Example Study Recommendation Letter #1 (Pediatric) Page 3

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Example Study Recommendation Letter #2 (pediatric)
Hospital/clinic logo here
To Whom it May Concern:
I have followed [patient name] since [age] months of age. [He/she] has a history of significant
global developmental delay, [he/she] is nonverbal, has hyperoral behavior, macrocephaly, small
stature, [further description]. [He/she] has a great disposition and visually interacts with [his/her]
environment. [He/she] has continued to make very slow but steady motor development but has
never developed speech. [He/she] has never had seizures or developmental regression. Significant
genetic, metabolic, and neurodiagnostic evaluation (as listed below) has yet to yield an underlying
diagnosis. I am referring [him/her] to the Undiagnosed Diseases Network in attempts to find a
unifying diagnosis for [his/her] multitude of symptoms. I truly feel that there is an underlying
metabolic or genetic cause for [his/her symptoms that our testing thus far has not uncovered.
[He/she] has been seen by numerous other specialists across the country.
[His/her] evaluation to date includes:
Normal or negative metabolic studies:
Urine organic acids
Serum amino acids
Creatinine guanidinoacetate
Etc.
Normal or negative genetic studies:
Routine chromosomes
Chromosomal microarray [year]
mtDNA point mutations and deletions
GeneDx 101 mitochondrial nuclear gene panel
Etc.
Neuroimaging/neurodiagnostics:
[year]--- MRI showed [results]
[year] CT showed [results]
Etc.
Letter #2, Page 1

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