Velocardiofacial syndrome

Velocardiofacial syndrome (VCFS) and DiGeorge syndrome (DGS) are well-characterized syndromes with multisystem involvement, dysmorphic facial features, and cognitive disabilities. A range of systemic findings may include congenital heart defects, which are present in 75% of individuals (conotruncal malformations, interrupted aortic arch, ventricular/atrial septal defects and teratology of fallot), palatal defects seen in 69% of individuals (velopharyngeal incompetence (VPI), submucosal cleft palate and cleft palate), and immune deficiencies secondary to thymic hypoplasia seen in up to 77% of individuals. Typical facial features include a long face, small almond shaped eyes, a wide bridged nose, and malformations of the ear. Learning disabilities, including delayed speech and developmental milestones, are present in 70-90% of individuals. Additional findings may include hypocalcemia (most severe during the neonatal period), feeding problems, psychiatric illness, seizures, renal abnormalities, short stature, hypotonia, scoliosis, and tapered fingers. Atypical features include autoimmune diseases (thrombocytopenia, juvenile rheumatoid arthritis, and vitiligo), hearing loss, and growth hormone deficiencies.

Tests Available

Forms and Documents

Test Details

  • Abnormal fetal ultrasound findings
  • Ambiguous karyotype results
  • Suspected deletion/duplication syndrome
  • Family history of known or suspected chromosome imbalances
  • Abnormal maternal serum screening
  • Advanced maternal age
  • Targeted Array CGH

Ordering

410
~2 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

81229x1, 81265x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Rickman L et al. Eur J Med Genet 48:232?240, 2005
  2. Sagoo GS et al. Genet Med 2009;11:139?46
  3. Hochstenbach R et al. Eur J Med Genet 2009;52:161?9
  4. ACOG Committee Opinion No. 446. Obstet & Gynecol 114:1161?1163, 2009
  5. Vialard F et al. Fetal Diagn Ther 25:277?284, 2009

Forms and Documents

Test Details

TBX1
  • Confirmation of the clinical diagnosis if FISH testing for the common 3Mb deletion of 22q11.2 is negative
  • Differential diagnosis between syndromes that have developmental delay and other dysmorphic features
  • Development of an appropriate evaluation and management plan
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

358
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 749 Cleft palate and cleft lip
  • 315.3 Developmental speech or language disorder
  • 759.8 Other specified anomalies
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
* For price inquiries please email zebras@genedx.com

References

  1. McDonald-McGinn, D. et al. (2001) Genet Med. 3(1): 23-29;
  2. Sullivan, K. et al. (1998) Clin Immun Immunopath. 86(2): 141-146
  3. Solot, C. et al. (2000) J Commun Disord. 33:187-204
  4. Yagi, H. et al. (2003) The Lancet. 362: 1366-1373
  5. Torres-Juan, L. et al. (2007) European J of Human Genet. 15: 658-663
  6. Zweier, C. et al. (2007) Am J Hum Genet. 80(3): 510-517
  7. Paylor, R. et al. (2006) www.pnas.org. 103(20): 7729-7734
  8. DECIPHER database: https://decipher.sanger.ac.uk/application/syndrome/16