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GTR Home > Tests > Goldberg schprintzen megacolon syndrome testing (KIAA1279)


Test name


Goldberg schprintzen megacolon syndrome testing (KIAA1279)

Purpose of the test


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



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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
Product of conception (POC)
Amniotic fluid
Chorionic villi
Cord blood
Frozen tissue
Fetal blood
Cell culture
Buccal swab


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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Clinical utility


Not provided

Clinical validity


Mutations in the KIAA1279 gene (OMIM #609367) have been identified in patients with GOSHS and homozygous nonsense mutations have been reported in 10 affected individuals in two families. The KIAA1279 gene maps to 10q22.1 and is likely important in both enteric and central nervous system development as it is highly expressed in heart, brain, reproductive, spinal cord regions. It has 7 exons, spanning 28 kb, with 2 tetratricopeptide repeats (TPR).

  • 1. Goldberg, RB., et al. Hirschsprung megacolon and cleft palate in two sibs. J. Craniofac. Genet. Dev. Biol. 1981. 1:185-189. 2. Hurst, JA., et al. Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. J. Med. Genet. 1988. 25:494-497 3. Brooks, AS., et al. Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. Am. J. Hum. Genet. 2005. 77:120-126. 4. Murphy, HR, el al. Two brothers with Goldbery-Shprintzen syndrome. Clin Dysmorph. 2006. 15:165-169 5. Dastot-Le Moal, F., et al. ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum. Mutat. 2007. 28:313-321. 6. Sood, S., et al., Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nature Genet. 1996. 12:209-211 7. Bassett, AS., Clinical features of 78 adults with 22q11 deletion syndrome. Am. J. Med. Genet. 2005. 138A:307-313.

Test services

  • Confirmation of research findings
  • Custom Sequence Analysis
  • Clinical Testing/Confirmation of Mutations Identified Previously
  • 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.