Skeletal dysplasia core & extended NGS panel

Connective Tissue Gene Tests offers three options for skeletal dysplasia testing. The core skeletal dysplasia panel is designed to detect mutations in genes responsible for lethal or severe skeletal dysplasias that occur with a high incidence. The extended skeletal dysplasia panel contains genes linked to disorders that are also phenotypically severe but occur less frequently. These two panels may also be ordered as a single combined panel (Skeletal dysplasia core & extended NGS panel). The Skeletal dysplasia core and extended panel may also be combined with the Skeletal ciliopathy NGS panel.

The genes constituting these panels have been selected with input from several clinical geneticists with expertise in the skeletal dysplasia field.

The Skeletal dysplasia core & extended NGS panel consists of twenty-nine genes: ALPL, ARSL, COL1A1, COL1A2, COL2A1, COL10A1, COL11A1, COL11A2, DDR2, EBP, FGFR3, INPPL1, NKX3-2, FLNB, HSPG2, LBR, LIFR, MMP9, MMP13, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4.

Copy number variation (CNV) analysis of the skeletal 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.

Core Skeletal Dysplasia Panel

Gene Disorder MIM Inheritance
ALPL Hypophosphatasia, adult
Hypophosphatasia, childhood
Hypophosphatasia, infantile		 146300
241510
241500		 AD / AR
COL1A1 Osteogenesis imperfecta, type I (OI1)
Osteogenesis imperfecta, type II (OI2)
Osteogenesis imperfecta, type III (OI3)
Osteogenesis imperfecta, type IV (OI4)		 166200
166210
259420
166220		 AD
COL1A2 Osteogenesis imperfecta, type II (OI2)
Osteogenesis imperfecta, type III (OI3)
Osteogenesis imperfecta, type IV (OI4)		 166210
259420
166220		 AD
COL2A1 Achondrogenesis, type II (ACG2) and Hypochondrogenesis
Platyspondylic skeletal dysplasia, Torrance type (PLSTD)
Spondyloepiphyseal dysplasia congenita (SEDC)		 200610
151210
183900		 AD
FGFR3 Achondroplasia (ACH)
Hypochondroplasia (HCH)
Thanatophoric dysplasia, type I (TD1)
Thanatophoric dysplasia, type II (TD2)		 100800
146000
187600
187601		 AD
INPPL1 Opsismodysplasia (OPSMD) 258480 AR
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) 613330 AR
SLC26A2 Achondrogenesis, type IB (ACG1B)
Atelosteogenesis, type II (AO2)
Diastrophic dysplasia (DTD)		 600972
256050
222600		 AR
SOX9 Campomelic dysplasia 114290 AD
TRIP11 Achondrogenesis, type IA (ACG1A) 200600 AR
 
 Extended Skeletal Dysplasia Panel
Gene Disorder MIM Inheritance
ARSL Chondrodysplasia punctata, X-linked recessive (CDPX1) 302950 XL
COL10A1 Metaphyseal chondrodysplasia, Schmid type (MCDS) 156500 AD
COL11A1 Fibrochondrogenesis 1 (FBCG1) 228520 AR
COL11A2 Fibrochondrogenesis 2 (FBCG2) 614524 AR
DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type 271665 AR
EBP Chondrodysplasia punctata, X-linked dominant (CDPX2) 302960 XL
FLNB Atelosteogenesis, type I and III (AO1)
Atelosteogenesis, type II (AO2)
Boomerang dysplasia		 108720
108721
112310		 AD
HSPG2 Dyssegmental dysplasia, Silvermann-Handmaker type (DDSH)
Schwartz-Jampel syndrome, type 1 (SJS1)		 224410
255800		 AR
LBR HEM skeletal dysplasia / Greenberg dysplasia (GRBGD) 215140 AR
LIFR Stuve-Wiedemann syndrome / Schwartz-Jampel syndrome type 2 601559 AR
MMP9 Metaphyseal anadysplasia 2 (MANDP2) 613073 AR
MMP13 Metaphyseal anadysplasia 1 (MANDP1) (Spondyloepimetaphyseal dysplasia, missouri type)
Metaphyseal dysplasia, Spahr type (MDST)		 602111
250400		 AD
AR
NSDHL Congenital hemidysplasia with ichthyosiform erythrodema and limb defects (CHILD syndrome) 308050 XLD
PEX7 Rhizomelic chondrodysplasia punctata, type 1 (RCDP1) 215100 AR
PTH1R Metaphyseal chondrodysplasia, Murk Jansen type
Chondrodysplasia, Blomstrand type (BOCD)		 156400
215045		 AD
AR
RMRP Anauxetic dysplasia (ANXD1)
Cartilage-hair hypoplasia (CHH)
Metaphyseal dysplasia without hypotrichosis (MDWH)		 607095
250250
250460		 AR
SBDS Shwachman-Diamond syndrome 1 (SDS1) 260400 AR
SLC35D1 Schneckenbecken dysplasia (SHNKND) 269250 AR
TRPV4 Metatropic dysplasia
Parastremmatic dwarfism		 156530
168400		 AD

Genes(s)

SLC26A2 COL1A2 TRIP11 TRPV4 ARSL DDR2 FLNB ALPL LIFR MMP13 RMRP PTH1R INPPL1 SBDS HSPG2 COL1A1 EBP COL2A1 NKX3-2 COL11A1 NSDHL COL11A2 SLC35D1 COL10A1 LBR PEX7 SOX9 MMP9 FGFR3

Disease Group(s)

Skeletal disorders

MIM

614524 187601 269250 613330 108720 271665 156400 200600 241510 256050 156530 302960 168400 258480 215045 260400 228520 108721 183900 616482 146300 100800 600972 222600 112310 607095 156500 187600 302950 151210 215140 250460 250250 255800 166200 602111 308050 601559 200610 259420 241500 166220 166210 613073 114290 224410 146000 215100

Billing

81479 x 1,81408 x 1

Ordering

Test Code
5120
Additional Test Codes
5118 —Next Generation Sequencing Only, 5119 — Deletion / Duplication Only
Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Prenatal Specimens
Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)
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
Shipping
Ship all specimen types at room temperature by overnight courier. Do not freeze. For more details and to download the required forms, please visit our shipping page.

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. HNL Lab Medicine strongly recommends confirmation of CPT codes with third-party payors and/or the AMA. We assume no responsibility for billing errors due to reliance upon CPT codes provided by HNL Lab Medicine.