Number of Panel Genes29

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.

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

Gene(s)

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

Disease Group

Skeletal disorders

MIM

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

Methodology

Billing

CPT Code(s)
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.

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.

What's New

October 13, 2021

CTGT.net: A New Website Experience

We've refreshed our look and feel to better meet your needs. 

CTGT's new website is not only user-friendly but also provides more advanced test search capabilities, additional methodologies, and a clean design suited for multi-platform usage.

Read More
September 28, 2021

9 New Tests for Genetic Carrier Screening Panels

CTGT is now offering 9 NEW tests for Genetic Carrier Screening. 
Read More
September 25, 2021

New York State Clinical Laboratory Permit Approval

CTGT is proud to announce that its CLIA licensed and CAP-accredited Pennsylvania laboratory has earned a New York State Department of Health clinical laboratory permit to perform genetic testing for patients residing within the state of New York. 
Read More
September 23, 2021

California Department of Public Health Clinical Laboratory License Approval

CTGT is proud to announce that its CLIA licensed and CAP-accredited Pennsylvania laboratory is now licensed by the California Department of Public Health to perform genetic testing for patients residing within the state of California. 
Read More
September 20, 2021

Patient Insurance Billing, Prior Authorization, and Benefit Investigation

CTGT is dedicated to providing accessible, affordable, and high-quality lab services.
Read More