Inpatient and Outpatient Orderable

Prenatal Skeletal Dysplasia Build info

Synonyms

  • PRENATAL SKELETAL DYSPLASIA
  • PN SKELDYS
  • LAB11642

Procedure Name

PRENATAL SKELETAL DYSPLASIA

Procedure Master Number

LAB11642

Procedure ID

115599

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 Sources

 Amniotic Sac

Specimen Types

 Amniotic Fluid

Container

Sterile Tube

Collection Instructions

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

Specimen Volume

20 mL Amniotic Fluid

Transport Instructions

Room Temperature

Specimen Stability

Methodology

 Next-gen Sequencing
 

Days Performed

Performing Laboratory

GeneDx

CPT

81404x2
81405x1
81408x2
81479x3

PDM

 1659874

Only Orderable at Locations:

 Orderable Everywhere

Results
Component Name Base Name Common Name External Name
PRENATAL SKELETAL DYSPLASIA PANEL PRENATSKEL PRENATAL SKELETAL DYSPLASIA PANEL Prenatal Skeletal Dysplasia Panel

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
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