GTR Home > Tests > Seckel Syndrome Panel

Overview

Test name

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Seckel Syndrome Panel

Purpose of the test

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

Condition

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3 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

10 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Not provided

Clinical utility

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Establish or confirm diagnosis

Citations
  • 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

How to order

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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

Test services

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

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