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GTR Home > Tests > Macrocephaly Panel


Test name


Macrocephaly Panel

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Monitoring, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening



Click Indication tab for more information.

How to order


•All samples should be shipped via overnight delivery at room temperature. •No weekend or holiday deliveries. •Label each specimen with the patient’s name, date of birth and date sample collected. •Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Isolated DNA
Peripheral (whole) blood


Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis

  • 1. Williams, C.A., A. Dagli, and A. Battaglia, Genetic disorders associated with macrocephaly. Am J Med Genet A, 2008. 146A(15): p. 2023-37. 2. Olney, A.H., Macrocephaly syndromes. Semin Pediatr Neurol, 2007. 14(3): p. 128-35. 3. Tarpey, P.S., et al., A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet, 2009. 41(5): p. 535-43. 4. Weaver, D.D., et al., A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly. J Pediatr, 1974. 84(4): p. 547-52. 5. Hurst, J.A., et al., Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. Eur J Hum Genet, 2011. 19(7): p. 757-62. 6. Veugelers, M., et al., Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Hum Mol Genet, 2000. 9(9): p. 1321-8. 7

Clinical validity


Not provided

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.