Seckel syndrome

Tests Available

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • Establish the type of microcephaly and cause in order to provide information regarding prognosis, management and recurrence risk.
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Next-Gen Sequencing


6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs


81404x3, 81405x3, 81406x1, 81407x2, 81408x2
* For price inquiries please email


  1. Ashwal et al., (2009) Neurology 73(11): 887-897 (PMID: 19752457).
  2. Kaindl et al., (2010) Progress in Neurobiology 90:363-383 (PMID: 19931588).
  3. Verloes A, Drunat S, Gressens P, et al. Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders. 2009 Sep 1 [Updated 2013 Oct 31]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): Univers
  4. Woods CG (2004) Current Opinion in Neurobiology 14:112-117 (PMID: 15018946).
  5. Abuelo, D (2007) Semin Pediatr Neurol 14:118-127 (PMID: 17980308).
  6. Faheem et al., (2015) BMC Med Genomics 8 Suppl 1:S4 (PMID: 25951892).
  7. Shanmugham et al., Trio-based whole exome sequencing (WES): an effective diagnostic tool for patients with microcephaly [abstract]. In National Society of Genetic Counselors Annual Education Conference 2016 Sept 27-Oct 1, Seattle WA