Spondylo-Epi-Metaphyseal dysplasias NGS panel

Number of Panel Genes:

Connective Tissue Gene Tests' Spondylo-Epi-Metaphyseal dysplasias NGS panel consists of fifty-four genes. It covers various chondrodysplasias with significant spinal, epiphyseal and/or metaphyseal involvement.

The Spondylo-Epi-Metaphyseal dysplasias NGS panel consists of fifty-four genes: ACAN, ACP5, B3GALT6, B3GAT3, BGN, C21orf2, CANT1, CHST3, COL2A1, COL9A1, COL9A2, COL9A3, COL10A1, COL11A1, COL11A2, COMP, DYM, DDR2, EIF2AK3, FGFR3, FLNB, FN1, GPX4, HSPG2, IDUA, IHH, IMPAD1, INPPL1, KIF22, LIFR, LONP1, MATN3, MMP9, MMP13, NANS, NEK1, NKX3-2, NPR2, PAPSS2, PAM16, PCYT1A, PTH1R, RAB33B, RMRP, RNU4ATAC, RSPRY1, RUNX2, SBDS, SLC26A2, SMARCAL1, TRAPPC2, TRPV4, WISP3, and XYLT1.

Copy number variation (CNV) analysis of the Spondylo-Epi-Metaphyseal dysplasia 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
ACAN	Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepiphyseal dysplasia, Kimberley type Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	612813 608361 165800	AR AD AD
ACP5	Spondyloenchondrodysplasia with immune dysregulation	607944	AR
B3GALT6	Ehlers-Danlos syndrome, spondylodysplastic type, 2 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	615349 271640	AR
B3GAT3	Multiple joint dislocations, short stature, and craniofacial dysmorphism, with or without congenital heart defects	245600	AR
BGN	Spondyloepimetaphyseal dysplasia, X-linked	300106	XLR
C21orf2	Axial spondylometaphyseal dysplasia Short-rib thoracic dysplasia, C21orf2 related	602271 -	AR AR
CANT1	Desbuquois dysplasia 1	251450	AR
CHST3	Spondyloepiphyseal dysplasia with congenital joint dislocations	143095	AR
COL2A1	Type II collagenopathies	108300, 132450 150600, 151210 156550, 183900 184250, 200610 271700, 604864 608805, 609162 609508, 616583	AD
COL9A1	Epiphyseal dysplasia, multiple, 6 Stickler syndrome, type IV	614135 614134	AD AR
COL9A2	Epiphyseal dysplasia, multiple, 2 Stickler syndrome, type V	600204 614284	AD AR
COL9A3	Epiphyseal dysplasia, multiple, 3 Stickler syndrome, COL9A3 related	600969	AD AR
COL10A1	Metaphyseal chondrodysplasia, Schmid type	156500	AD
COL11A1	Fibrochondrogenesis 1 Marshall syndrome Stickler syndrome, type II	228520 154780 604841	AR AD AD
COL11A2	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia Stickler syndrome, type III Weissenbacher-Zweymuller syndrome	614524 215150 184840 277610	AD/AR AR AD AD
COMP	Epiphyseal dysplasia, multiple, 1 Pseudoachondroplasia	132400 177170	AD AD
DDR2	Spondylometaepiphyseal dysplasia, short limb-hand type	271665	AR
DYM	Dyggve-Melchior-Clausen disease Smith-McCort dysplasia	223800 607326	AR AR
EIF2AK3	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus (Wolcott-Rallison syndrome)	226980	AR
FGFR3	Achondroplasia Hypochondroplasia Thanatophoric dysplasia, type I Thanatophoric dysplasia, type II	100800 146000 187600 187601	AD AD AD AD
FLNB	FLNB related disorders	108720, 108721 112310, 150250 272460	AD/AR
FN1	Spondylometaphyseal dysplasia, corner fracture type	184255	AD
GPX4	Spondylometaphyseal dysplasia, Sedaghatian type	250220	AR
HSPG2	Dyssegmental dysplasia, Silverman-Handmaker type Schwartz-Jampel syndrome, type 1	224410 255800	AR AR
IDUA	Mucopolysaccharidosis Ih (Hurler) Mucopolysaccharidosis Ih/s (Hurler-Scheie) Mucopolysaccharidosis Is (Scheie)	607014 607015 607016	AR AR AR
IHH	Acrocapitofemoral dysplasia	607778	AR
IMPAD1	Chondrodysplasia with joint dislocations, GPAPP type	614078	AR
INPPL1	Opsismodysplasia	258480	AR
KIF22	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	603546	AD
LIFR	Stuve-Wiedemann syndrome	601559	AR
LONP1	CODAS syndrome	600373	AR
MATN3	Epiphyseal dysplasia, multiple, 5 Spondyloepimetaphyseal dysplasia, MATN3 related	607078 608728	AD AR
MMP9	Metaphyseal anadysplasia 2	613073	AR
MMP13	Metaphyseal anadysplasia 1 & Spondyloepimetaphyseal dysplasia, Missouri type Metaphyseal dysplasia, Spahr type	602111 250400	AD AR
NANS	Spondyloepimetaphyseal dysplasia, Genevieve type	610442	AR
NEK1	Axial spondylometaphyseal dysplasia, NEK1 related Short-rib thoracic dysplasia 6 with or without polydactyly	- 263520	AR AR / DR
NKX3-2	Spondylo-megaepiphyseal-metaphyseal dysplasia	613330	AR
NPR2	Acromesomelic dysplasia, Maroteaux type (AMDR) Epiphyseal chondrodysplasia, Miura type (ECDM) Short stature with nonspecific skeletal abnormalities (SNSK)	602875 615923 616255	AR AD AD
PAM16	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type	613320	AR
PAPSS2	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	612847	AR
PCYT1A	Spondylometaphyseal dysplasia with cone-rod dystrophy	608940	AR
PTH1R	Eiken syndrome Metaphyseal chondrodysplasia, Murk Jansen type	600002 156400	AR AD
RAB33B	Smith-McCort dysplasia 2	615222	AR
RMRP	Anauxetic dysplasia Cartilage-hair hypoplasia Metaphyseal dysplasia without hypotrichosis	607095 250250 250460	AR AR AR
RNU4ATAC	Roifman syndrome	616651	AR
RSPRY1	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	616723	AR
RUNX2	Cleidocranial dysplasia Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	119600 156510	AD AD
SBDS	Shwachman-Diamond syndrome	260400	AR
SLC26A2	Achondrogenesis Ib, Atelosteogenesis II De la Chapelle dysplasia Diastrophic dysplasia Epiphyseal dysplasia, multiple, 4	600972 256050 256050 222600 226900	AR AR AR AR AR
SMARCAL1	Schimke immunoosseous dysplasia	242900	AR
TRAPPC2	Spondyloepiphyseal dysplasia tarda	313400	XLR
TRPV4	Metatropic dysplasia Parastremmatic dwarfism Spondyloepiphyseal dysplasia, Maroteaux type Spondylometaphyseal dysplasia, Kozlowski type	156530 168400 184095 184252	AD AD AD AD
WISP3	Spondyloepiphyseal dysplasia tarda with progressive arthropathy	208230	AR
XYLT1	Desbuquois dysplasia 2	615777	AR

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Tests Available

54 Panel Genes: ACAN, ACP5, B3GALT6, B3GAT3, BGN, C21orf2, CANT1, CHST3, COL2A1, COL9A1, COL9A2, COL9A3, COL10A1, COL11A1, COL11A2, COMP, DDR2, DYM, EIF2AK3, FGFR3, FLNB, FN1, GPX4, HSPG2, IDUA, IHH, IMPAD1, INPPL1, KIF22, LIFR, LONP1, MATN3, MMP9, MMP13, NANS, NEK1, NKX3-2, NPR2, PAPSS2, PAM16, PCYT1A, PTH1R, RAB33B, RMRP, RNU4ATAC, RSPRY1, RUNX2, SBDS, SLC26A2, SMARCAL1, TRAPPC2, TRPV4, WISP3, XYLT1

$1,400

Test Code: 5185

$990

Test Code: 5186

$1,600

Test Code: 5187

Test Details

Technical Information

Panel Genes:

ACAN, ACP5, B3GALT6, B3GAT3, BGN, C21orf2, CANT1, CHST3, COL2A1, COL9A1, COL9A2, COL9A3, COL10A1, COL11A1, COL11A2, COMP, DDR2, DYM, EIF2AK3, FGFR3, FLNB, FN1, GPX4, HSPG2, IDUA, IHH, IMPAD1, INPPL1, KIF22, LIFR, LONP1, MATN3, MMP9, MMP13, NANS, NEK1, NKX3-2, NPR2, PAPSS2, PAM16, PCYT1A, PTH1R, RAB33B, RMRP, RNU4ATAC, RSPRY1, RUNX2, SBDS, SLC26A2, SMARCAL1, TRAPPC2, TRPV4, WISP3, XYLT1

Disease Groups:

Skeletal Dysplasias

Billing

CPT Codes:

81406 x 1

81479 x 1

Ordering

SKU:

5185

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: