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, CYP19A1, DUSP6, ESR1, FEZF1, FGF17, FGF8, FGFR1, GNRH1, GNRHR, HS6ST1, IL17RD, KAL1, KISS1, KISS1R, LEP, LEPR, LHB, LHCGR, NR0B1, NR5A1, NSMF, POLR3B, PROK2, PROKR2, PROP1, SEMA3A, SEMA3E, SOX10, SPRY4, TAC3, TACR3, WDR11
  • 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
  • Deletion/Duplication Analysis

Ordering

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

Billing

81404x2, 81406x2, 81407x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Balasubramanian R, Crowley WF Jr. Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. 2007 May 23 [Updated 2017 Mar 2]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993
  2. Brioude et al., (2010) Eur J Endocrinol 162:835-851 (PMID: 20207726)
  3. Kim et al., (2008) Am J Hum Genet 83(4):511-519 (PMID: 18834967)
  4. Dubern et al., (2012) Biochimie 94 (10): 2111-2115 (PMID: 22627381)
  5. Faroqui et al., (2007) The New England Journal Of Medicine 356 (3):237-247 (PMID: 17229951)
  6. Arnhold et al., (2009) Horm. Res. 71: 75-82 (PMID: 19129711)
  7. Raivio et al., (2007) N Engl J Med 357(9):863-873 (PMID: 17761590)
  8. Silveira et al., (2010) Mol Cell Endocrinol 324(1-2):30-38 (PMID: 20188792)
  9. Luo et al. (2015) Gynecol Endocrinol 31(7): 516-521 (PMID:26036718)
  10. Leschek et al., (2001) J. Pediat. 138: 949-951 (PMID: 11391350)
  11. Quaynor et al., (2011) Fertil Steril 96(6): 1424-1430 (PMID: 22035731)
  12. Bianco & Kaiser, (2009) Nat Rev Endocrinol 5(10):569-576 (PMID: 19707180)