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Pediatric
Genetic Evaluation
Introduction
A pediatric genetic evaluation is indicated when an infant or child
has a birth defect, unusual features, delayed growth, ambiguous
genitalia, developmental disabilities, delayed puberty, or other
problems suggestive of a genetic disorder. A geneticist physician
with in-depth knowledge of birth defects, syndromes, and genetic
disorders performs the evaluation. Clinical geneticists have expertise
in the diagnosis, management, and counseling of individuals and
families for a wide variety of genetic disorders. Upon reaching
a specific diagnosis, the prognosis can be determined and recommendations
for further management of the patient's condition can be made. The
diagnosis may have implications for other family members, or may
have a low recurrence risk.
Procedure
The clinical genetic evaluation usually involves an assessment of
the patient's past medical history, the family history and pedigree,
and a detailed physical examination of the patient and possibly
other family members. The results of the history and physical examination
determine whether genetic laboratory tests are needed. Often a chromosome
analysis or DNA test will facilitate a definitive genetic diagnosis.
Sometimes biochemical studies are indicated.
Indications
Patients include newborn babies, infants, children, and sometimes
adults who show features of a possible genetic disorder. Genetic
conditions include congenital malformations, chromosome abnormalities,
inborn errors of metabolism, storage diseases, skeletal dysplasias,
neurodegenerative disorders, teratogenic disorders, deformation
disorders, connective tissue disorders, developmental events during
pregnancy, teratogens, multi-factorial situations, single gene mutations,
or chromosome aberrations.
CPT Codes
99244 - consultation, level 3
99245 - consultation, level 4
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