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Prenatal Noonan Spectrum Disorders Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SHOC2, SOS1
Disorders:
Clinical Utility:
  • Prenatal ultrasound findings suggestive of Noonan syndrome, including cystic hygroma
  • Fetus with ultrasound anomalies & parent with clinical diagnosis of Noonan syndrome
Lab Method:
Resequencing Array

ORDERING

Test Code:
357
Turnaround Time:
2-3 weeks
Preferred Specimen:
20 mg CVS
Alternative Specimen:
20 mL Amniotic Fluid, 2 T25 flasks of cultured amniocytes, 2 T25 flasks of cultured chorionic villi

BILLING

CPT Codes:
81400x1, 81404x1, 81405x1, 81265x1, 88235x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Prenatal Billing Policy
ICD Codes:
  • 759.89: Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Achiron, et al (2000) Noonan Syndrome: A cryptic condition in early gestation. Am J Med Genet 92:159-165
  2. Adekunle, et al (1999) Increased first trimester nuchal translucency: pregnancy and infant outcomes after routine screening for Down’s syndrome in an unselected antenatal population. Br J Radiol 72:457-60
  3. Tartaglia, et al (2001) Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465-8
  4. Trauffer, et al (1994) The natural history of euploid pregnancies with first-trimester cystic hygromas. Am J Obstet Gynecol 170:1279-84
  5. Benacerraf, et al (1989) The prenatal sonographic features of Noonan syndrome. J Ultrasound Med 8:59-63
  6. Ferguson et al. (2006) PTPN11 gene analysis in fetuses with abnormal ultrasound findings: The GeneDx experience. Poster presentation at the Cardiofaciocutaneous Syndrome & Noonan Syndrome International Symposium, Nov 17-19, 2006, Potomac, MD
  7. Hiippala, et al (2001) Fetal nuchal translucency and normal chromosomes: a long-term follow-up study. Ultrasound Obstet Gynecol 18:18-22
  8. Reynders, et al (1997) First trimester isolated fetal nuchal lucency: Significance and outcome. J Ultrasound Med 16:101-105
  9. Souka, et al (2001) Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 18:9-17
  10. Pandit B et al. (2007) Nat Genet 39:1007-1012. Lee et al. (2009) Clin Genet. 75(2):190-4

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