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Test Code
5114
Test Name
Skeletal Ciliopathy 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 this disorder. Recommended for individuals with a personal and/or family history of this disorder 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

The Skeletal Ciliopathy NGS panel is composed of genes associated with skeletal dysplasias which result from abnormalities in the structure or function of cilia. NGS skeletal dysplasia panels for other disorders, which are not classified as ciliopathies, are offered separately or together with the skeletal ciliopathy panel.

The Skeletal ciliopathy NGS panel consists of twenty-four genes: C21orf2, C2CD3, CEP120, DYNC2H1, DYNC2LI1, EVC, EVC2, ICK, IFT43, IFT52, IFT80, IFT81, IFT122, IFT140, IFT172, KIAA0586, KIAA0753, NEK1, TCTEX1D2, TTC21B, WDR19, WDR34, WDR35 and WDR60.

 

Gene

Disorder

MIM

Inheritance

C21orf2

Short-rib thoracic dysplasia,  C21orf2 related

Axial spondylometaphyseal dysplasia

-

602271

AR

AR

C2CD3

Short-rib thoracic dysplasia, C2CD3 related

-

AR

CEP120

Short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13)

616300

AR

DYNC2H1

Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3)

613091

AR

DYNC2LI1

Short-rib thoracic dysplasia 15 with or without polydactyly (SRTD15)

617088

AR

EVC

Ellis-van Creveld syndrome (EVC)

Weyers acrofacial dysostosis (WAD)

225500

193530

AR

AD

EVC2

Ellis-van Creveld syndrome (EVC)

Weyers acrofacial dysostosis (WAD)

225500

193530

AR

AD

ICK

Short-rib thoracic dysplasia, ICK related

-

AR

IFT43

Cranioectodermal dysplasia 3 (CED3)

Short-rib thoracic dysplasia 18 with polydactyly (SRTD18)

614099

617866

AR

AR

IFT52

Short-rib thoracic dysplasia 16 with or without polydactyly (SRTD16)

617102

AR

IFT80

Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2)

611263

AR

IFT81

Short-rib thoracic dysplasia 19 with or without polydactyly (SRTD19)

617895

AR

IFT122

Cranioectodermal dysplasia 1 (CED1)

218330

AR

IFT140

Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9)

266920

AR

IFT172

Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)

615630

AR

KIAA0586

Short-rib thoracic dysplasia 14 with polydactyly (SRTD14)

616546

AR

KIAA0753

Short-rib thoracic dysplasia, KIAA0753 related

-

AR

NEK1

Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6)

263520

AR

TCTEX1D2

Short-rib thoracic dysplasia 17 with or without polydactyly (SRTD17)

617405

AR

TTC21B

Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4)

613819

AR

WDR19

Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5)

Cranioectodermal dysplasia 4 (CED4)

614376

614378

AR

AR 

WDR34

Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11)

615633

AR

WDR35

Cranioectodermal dysplasia 2 (CED2)

Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5)

613610

614091

AR

AR

WDR60

Short-rib thoracic dysplasia 8 with or without polydactyly (SRTD8)

615503

AR

 

 
Testing Schedule
Monday-Friday
Genes
C21orf2, C2CD3, CEP120, DYNC2H1, DYNC2LI1, EVC, EVC2, ICK, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, KIAA0586, KIAA0753, NEK1, TCTEX1D2, TTC21B, WDR19, WDR34, WDR35, WDR60
MIM
193530, 218330, 225500, 263520, 266920, 611263, 613091, 613610, 613819, 614091, 614099, 614376, 614378, 615503, 615630, 615633
Disease Group
Skeletal 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.
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