CHARGE Syndrome

CHARGE syndrome refers to a specific set of birth defects, including coloboma of the eye, heart defects, choanal atresia, mental and growth retardation and ear anomalies or hearing loss. Congenital anomalies, which when seen together are quite specific to CHARGE syndrome, include coloboma of the iris, retina, choroid and/or optic disc with or without microphthalmos; choanal atresia or stenosis; and hypoplastic semi-circular canals. Cranial nerve dysfunction is a minor sign and includes anosmia, neurosensory deafness, facial palsy and swallowing difficulties. Ear abnormalities involving the helices, middle ear and inner ear are very common and were seen in 90% of affected individuals in one study. Affected patients may also have genital abnormalities (hypogonadotropic hypogonadism), pre- and post-natal growth deficiency, hypotonia, and characteristic hands (broad palms with “hockey-stick” palmar crease, short fingers and small/unusual thumbs). The characteristic facial appearance includes square face with broad prominent forehead, arched eyebrows, large eyes with or without ptosis, prominent nasal bridge and columella, flat midface, small mouth and facial asymmetry. CHARGE syndrome encompasses additional nonspecific features such as mental retardation, skeletal abnormalities, hypodontia, orofacial clefting, tracheoesophageal fistula, and urinary tract and renal anomalies.

Tests Available

Forms and Documents

Test Details

CHD7
  • Confirmation of the clinical diagnosis
  • Differential diagnosis from the 22q11 deletion spectrum (VCFS/DiGeorge syndrome), VACTERL association, PAX2 mutations and Retinoic embryopathy
  • Development of appropriate evaluation and management plan
  • Capillary Sequencing

Ordering

2261
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81407x1
Yes
Yes
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

References

  1. Stromland et al., (2005) Am J Med Genet 133A:331-339
  2. Vissers et al., (2004) Nat Genet 36:955- 957
  3. Jongmans et al., (2006) J Med Genet 43:306-314
  4. Lalani et al., (2006) Am J Hum Genet 78:303-314

Forms and Documents

Test Details

CHD7
  • Full gene sequencing for fetuses with prenatal ultrasound findings suggestive of CHARGE syndrome
  • Mutation-specific testing for fetuses with a family history of a known CHD7 mutation
  • Capillary Sequencing

Ordering

2262
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81407x1, 81265x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Stromland et al., (2005) Am J Med Genet 133A:331-339
  2. Vissers et al., (2004) Nat Genet 36:955- 957
  3. Jongmans et al., (2006) J Med Genet 43:306-314
  4. Lalani et al., (2006) Am J Hum Genet 78:303-314

Forms and Documents

Test Details

CHD7, FGF8, FGFR1, GNRH1, GNRHR, KAL1, KISS1, KISS1R, NR0B1, NSMF (NELF), PROK2, PROKR2, TAC3, TACR3
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with HH
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

676
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81406x1, 81407x1, 81479x3
Yes
Yes
  • 255.2 Adrenogenital disorders, Adrenogenital syndromes,
  • 781.1 Disturbances of sensation of smell and taste Anosmia Parageusia Parosmia
  • 253.4 Other anterior pituitary disorders, Isolated or partial deficiency of an anterior pituitary hormone, other than growth hormone Prolactin deficiency
  • 257.2 Other testicular hypofunction, Defective biosynthesis of testicular androgen, Eunuchoidism: NOS hypogonadotropic Failure: Leydig's cell, adult seminiferous tubule, adult Testicular hypogonadism
* For price inquiries please email zebras@genedx.com

References

  1. Pallais et al., (2007) [Updated 2010 Oct 14]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1278/
  2. Silveira et al., (2010) Mol Cell Endocrinol 324(1-2):30-8.
  3. Brioude et al., (2010) Eur J Endocrinol 162:835-851.
  4. Raivio et al., (2007) N Engl J Med 357(9):863-73.
  5. Bennett (2004) Pharmacogenomics 5(4):433-8.
  6. Laitinen et al., (2011) Orphanet J Rare Dis 6:41.
  7. Sato et al., (2004) J Clin Endocrinol Metab 89(3):1079-1088.
  8. Trarbach et al., (2006) J Clin Endocrinol Metab 91(10):4006- 12.
  9. Kim et al., (2008) Am J Hum Genet 83(4):511-9.
  10. Cariboni et al., (2004) Hum Mol Genet 13(22):2781-91.
  11. Bianco & Kaiser (2009) Nat Rev Endocrinol 5(10):569-76.
  12. Shaw et al., (2011) J Clin Endocrinol Metab 96(3):E566-76.
  13. Trarbach et al., (2010) Clin Endocrinol 72(3):371-6.
  14. Falardeau et al., J Clin Invest. 2008 Aug;118(8):2822-31.
  15. Miura et al., (2004) J Hum Genet 49(5):265-8.
  16. Xu et al., (2011) Fertil Steril 95(5):1613-20.
  17. OMIM, Online Mendelian Inheritance in Man, (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), http://www.ncbi.nlm.
  18. Chan et al., (2011) J Clin Endocrinol Metab 96(11):E1771-81.
  19. Topaloglu et al., (2012) N Engl J Med 366(7):629-35.
  20. Niakan & McCabe (2005) Molec Genet Metab 86:70-83.
  21. Achermann et al., (2001) Mol Cell Endocrinol 185(1-2):17-25.
  22. Young et al., (2010) J Clin Endocrinol Metab 95(5):2287-95.
  23. Topaloglu et al., (2009) Nat Genet 41(3):354-8.