Test Directory

Clear All
Test Code
C5087
Test Name
Craniosynostosis NGS Panel
CPT Codes
81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of conditions that cause craniosynostosis. Craniosynostosis occurs when one or more of the cranial sutures of the skull fuse prematurely before a baby's brain is fully formed. Signs of craniosynostosis include a full or bulging fontanelle and increasing head circumference. Recommended for prenatal diagnosis of a craniosynostosis and for individuals with a personal and/or family history of craniosynostosis to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Description

 

Gene

Disorder

MIM

Inheritance

CDC45

Craniosynostosis, CDC45 related

-

AR

CYP26B1

Craniosynostosis with radiohumeral fusions and

    other skeletal and craniofacial anomalies

614416

AR

EFNB1

Craniofrontonasal syndrome (CFNS)

304110

XLD

ERF

Craniosynostosis 4 (CRS4)

600775

AD

FGFR1

Pfeiffer syndrome

101600

AD

FGFR2

Apert syndrome

Beare-Stevenson cutis gyrata syndrome (BSTVS)

Bent bone dysplasia syndrome (BBDS)

Crouzon syndrome

Jackson-Weiss syndrome (JWS)

Pfeiffer syndrome

101200

123790

614592

123500

123150

101600

AD

FGFR3

Crouzon syndrome with acanthosis nigricans (CAN)

Muenke syndrome (MNKES)

612247

602849

AD

FREM1

Trigonocephaly 2 (TRIGNO2)

614485

AD

GLI3

Greig cephalopolysyndactyly syndrome (GCPS)

175700

AD

IFT43

Cranioectodermal dysplasia 3 (CED3)

614099

AR

IFT122

Cranioectodermal dysplasia 1 (CED1)

218330

AR

IL11RA

Craniosynostosis and dental anomalies (CRSDA)

614188

AR

MEGF8

Carpenter syndrome 2 (CRPT2)

614976

AR

MSX2

Craniosynostosis 2 (CRS2)

604757

AD

POR

Antley-Bixler syndrome with genital anomalies

    and disordered steroidogenesis (ABS1)

201750

AR

RAB23

Carpenter syndrome 1 (CRPT1)

201000

AR

RECQL4

Baller-Gerold syndrome (BGS)

218600

AR

SKI

Shprintzen-Goldberg craniosynostosis syndrome (SGS)

182212

AD

SLC25A24

Fontaine progeroid syndrome (FPS)

612289

AD

TCF12

Craniosynostosis 3 (CRS3)

615314

AD

TGFBR1

Loeys-Dietz syndrome 1 (LDS1)

609192

AD

TGFBR2

Loeys-Dietz syndrome 2 (LDS2)

610168

AD

TWIST1

Craniosynostosis 1 (CRS1)

Saethre-Chotzen syndrome (SCS)

123100

101400

AD

WDR19

Cranioectodermal dysplasia 4 (CED4)

614378

AR

WDR35

Cranioectodermal dysplasia 2 (CED2)

613610

AR

ZIC1

Craniosynostosis 6 (CRS6)

616602

AD
Testing Schedule
Monday-Friday
Genes
CDC45, CYP26B1, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT43, IL11RA, MEGF8, MSX2, POR, RAB23, RECQL4, SKI, SLC25A24, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1
MIM
101200, 101400, 101600, 123100, 123150, 123500, 123790, 175700, 182212, 201000, 201750, 218330, 218600, 304110, 600775, 602849, 604757, 609192, 610168, 612247, 613610, 614099, 614188, 614378, 614416, 614485, 614592, 614976, 615314, 616482
Disease Group
Craniosynostosis and Craniofacial Disorders
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
© 2026 HNL Lab Medicine. All rights reserved.