Prenatal Skeletal Dysplasia PN SkelDys

Synonyms

Allscripts (AEHR) Order Name

Not Orderable

Sunrise Clinical Manager (SCM) Order Name

Not Orderable

EPIC Order Name

Prenatal Skeletal Dysplasia

Clinical Info

Prenatal diagnosis in a fetus based on ultrasound findings suggestive of a skeletal dysplasia Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies Distinguish between causes and forms of skeletal dysplasias Genetic counseling, especially regarding recurrence risk

Specimen Type

Container

Sterile Tube

Collection Instructions

Container/Tube:  Sterile Vial
Specimen: 20 mL Amniotic Fluid
Transport Temperature: Room Temperature

Transport Instructions

Room Temperature

Specimen Stability

Methodology

 Next-gen Sequencing
 

Days Performed

Performing Laboratory

GeneDx

CPT

81404x2
81408x2
81265x1
81479x2

PDM

1659874

Result Interpretation

See Report
 
Includes Genes:
AGPS, ARSE, COL1A1, COL1A2, COL2A1, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR2, FGFR3, FLNB, GNPAT, IFITM5, LEPRE1, NEK1, PEX7, PPIB, SLC26A2, SOX9, TRIP11

Forms