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Test Details
Expand Genes
ANKRD11
- Confirmation of a clinical diagnosis
- Carrier testing for individuals with a known familial ANKRD11 mutation
- Prenatal diagnosis in at-risk pregnancies
Ordering
TB13
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
Billing
81479x1
No
Yes
For price inquiries please email zebras@genedx.com
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
References
- K.L. Skjei et al., “KBG Syndrome: Reports of Twins, Neurological Characteristics, and Delineation of Diagnostic Criteria”. Am J Med Genet, Part A Vol. 143A: 292-300 (2007).
- S. Sacharow et al., “Familial 16q24.3 Microdeletion Involving ANKRD11 Causes a KBG-Like Syndrome”. Am J of Med Genet Part A Vol. 158A: 547-552 (2012).
- M.H. Willemsen et al., “Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome”. Eur J of Human Genet Vol 18: 429-435. (2010)
- M. Isrie et al., “Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms”. Eur J of Hum Genet Vol 20: 131-133 (2012).
- E.L. Youngs et al., “ANKRD11 gene deletion in a 17-year-old male”. Clinical Dysmorphology Vol 20: 170- 171. (2011)
- F. Brancati et al., “KBG syndrome in a cohort of Italian patients”. Am J Med Genet Part A Vol. 131A: 144- 149 (2004).
- A. Sirmaci et al., “Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia”. Am J Hum Genet Vol 89: 289-294 (2011).
- A. Zhang et al., “Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators”. J Biol. Chem Vol. 279: 33799-33805 (2004).
- A. Zhang et al., “Characterization of transcriptional regulatory domains of ankyrin repeat cofactor-1”. Biochemical and Biophysical Research Communications Vol.358: 1034–1040 (2007).