Prenatal Skeletal Dysplasia

Synonyms

LAB11642
PN SKELDYS
PRENATAL SKELETAL DYSPLASIA

Cerner Name

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

Specimen Volume

20 mL Amniotic Fluid

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 Laboratories

GeneDx

CPT

81404x2
81405x1
81408x2
81479x3

PDM

1659874

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

Prenatal Cytogenetics Requisition

Molecular-send outs LAB11642

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