Prenatal Tuberous Sclerosis Panel

Forms and Documents

Test Details

TSC1, TSC2
  • Full gene sequencing and exon-level deletion/duplication for fetuses with prenatal ultrasound findings suggestive of TSC.
  • Variant-specific testing for fetuses with a family history of a known TSC1 or TSC2 pathogenic variant.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

934
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|4 Ug DNA Concentration

Billing

81405x1, 81406x2, 81407x1, and 81265x1
Yes
No
* For price inquiries please email zebras@genedx.com

References

  1. Northrup H, Koenig MK, Au KS. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2011 Nov 23]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.n
  2. Roach and Sparagano (2004) J Child Neurol 19:643-649. Gusman et al., (2012) Case Reports in Pediatrics 2012: 925646.
  3. Sciacca et al., (2014) BMC Cardiovasc Disord 14:66. Tsai et al., (2014) Cereb Cortex 24(2):315-327.
  4. Prabowo et al., (2013) Brain Pathology 23(1):45-59. Saada et al., (2009) Ultrasound Obstet Gynecol 34(4):489.
  5. Rose et al., (1999) Am J Hum Genet 64:986-992.
  6. Qin et al., (2010) Hum Genet 127:573-582.
  7. Mayer et al., (2013) Eur J Hum Genet e1–e4; doi:10.1038/ejhg.2013.129.
  8. Kozlowski et al., (2007) Hum Genet 121:389-400.
  9. Jones et al., (1999) Am J Hum Genet 64:1305-1315.
  10. Dabora et al., (2001) Am J Hum Genet 68:64-80.
  11. Sancak et al., (2005) Eur J Hum Genet 13:731-741.
  12. Au et al., (2007) Genet Med 9:88-100.
  13. Lee et al., (2013) Ultrasound Obsetet Gynecol 41(3) :306-311.