Skeletal ciliopathy NGS panel

Number of Panel Genes:

Connective Tissue Gene Tests 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.

Copy number variation (CNV) analysis of the skeletal ciliopathy genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests, unless otherwise indicated.

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

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Tests Available

24 Panel Genes: C21orf2, C2CD3, CEP120, DYNC2H1, DYNC2LI1, EVC, EVC2, ICK, IFT43, IFT52, IFT80, IFT81, IFT122, IFT140, IFT172, KIAA0586, KIAA0753, NEK1, TCTEX1D2, TTC21B, WDR19, WDR34, WDR35, WDR60

Test Code: 5112

Test Code: 5113

Test Code: 5114

Test Details

Technical Information

Panel Genes:

C21orf2, C2CD3, CEP120, DYNC2H1, DYNC2LI1, EVC, EVC2, ICK, IFT43, IFT52, IFT80, IFT81, IFT122, IFT140, IFT172, KIAA0586, KIAA0753, NEK1, TCTEX1D2, TTC21B, WDR19, WDR34, WDR35, WDR60

Disease Groups:

Skeletal Ciliopathies

MIM:

613091

225500

193530

225500

614099

611263

218330

266920

615630

263520

613819

614376

614378

615633

613610

614091

615503

Billing

CPT Codes:

81479 x 1

Ordering

SKU:

5112

Turnaround Time:

Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.

Non-Prenatal Specimens:

Whole blood: purple-top (EDTA) tube, minimum of 3 ml
Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Fibroblasts: 2 confluent T-25 flasks
Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted

Prenatal Specimens:

Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)

Shipping:

Ship all specimen types at room temperature by overnight courier. Do not freeze.

Related Tests

Disorder	Gene
Short-rib thoracic dysplasia 3 with or without polydactyly	DYNC2H1	Del Dup NGS
Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel	EVC, EVC2	Del Dup NGS
Short-rib thoracic dysplasia 2 with or without polydactyly	IFT80	Del Dup NGS
Short-rib thoracic dysplasia 6 with or without polydactyly	NEK1	Del Dup NGS
Short-rib thoracic dysplasia 4 with or without polydactyly	TTC21B	Del Dup NGS
Short-rib thoracic dysplasia 5 with or without polydactyly	WDR19	Del Dup NGS
Cranioectodermal dysplasia 4	WDR19	Del Dup NGS
Short-rib thoracic dysplasia 7 with or without polydactyly	WDR35	Del Dup NGS
Cranioectodermal dysplasia 2	WDR35	Del Dup NGS
Short-rib thoracic dysplasia 8 with or without polydactyly	WDR60	Del Dup NGS