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GTR Home > Tests > Primordial Dwarfism Panel


Test name


Primordial Dwarfism Panel

Purpose of the test


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



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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

Buccal swab
Cell culture
Cord blood
Fetal blood
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

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Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis

  • 1. Klingseisen A, Jackson AP. Mechanisms and pathways of growth failure in primordial dwarfism. (2011) Genes Dev. 25:2011-24. 2. Faivre, L. Cormier-Daire, V. Seckel Syndrome. Orphanet encyclopedia, April 2005. http://www.orpha.net 3. Willems, M. et al., Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPDII) familes. (2010) J Med Genet. 47:797-802. 4. Abdel-Salam G. et al., Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. (2012) Am J Med Genet A. 158A: 1455-1461. 5. O’Driscoll, M et al. A splicing mutation affecting expression of ataxia-telangiectasa and Rad3-related protein (ATR) results in Seckel syndrome. (2003) Nature Genet. 33:497-501. 6. Sir J et al. A primary microcephaly protein complex forms a ring around parental centrioles. (2011) Nat Genet. 43: 1147-53. 7. Al-Dosari, MS, et al. Novel CENPJ mutation causes Seckel syndro

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.