Prenatal Noonan Spectrum Panel PreNoonan

Synonyms

Allscripts (AEHR) Order Name

Prenatal Noonan Spectrum

Sunrise Clinical Manager (SCM) Order Name

Not Orderable

EPIC Order Name

Clinical Info

Prenatal ultrasound findings suggestive of Noonan syndrome, including cystic hygroma Fetus with ultrasound anomalies & parent with clinical diagnosis of Noonan syndrome

Specimen Type

CVS/Amnio

Container

Sterile Tube

Collection Instructions

Container/Tube:  Sterile Container of T25 Flask
Specimen:  20 mg CVS 
Alternate sample:                   
                    20 mL Amniotic Fluid 
                    2 T25 Flasks of cultured amniocytes
                    2 T25 Flasks of cultured chorionic villi
                    3 ug DNA Concentration
 Note:   Test requires indication for testing submitted with specimen

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Next-gen Sequencing
 
Genes:
   BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11 RAF1 RIT1 SHOC2 SOS1

Days Performed

TAT: 2-3 Weeks

Performing Laboratory

GeneDx

CPT

81404
81405x2
81406x3

PDM

1659920

Result Interpretation

See Report
 

Forms