Skeletal dysplasia core 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 NGS panel consists of ten genes: ALPL, COL1A1, COL1A2, COL2A1, FGFR3, INPPL1, NKX3-2, SLC26A2, SOX9, TRIP11.

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

Genes(s)

SLC26A2 COL1A2 TRIP11 ALPL INPPL1 COL1A1 COL2A1 NKX3-2 SOX9 FGFR3

Disease Group(s)

Skeletal disorders

MIM

187601 613330 200600 241510 256050 258480 183900 616482 146300 100800 600972 222600 187600 151210 166200 200610 259420 241500 166220 166210 114290 146000

Billing

81479 x 1,81408 x 1

Ordering

Test Code
5117
Additional Test Codes
5115 —Next Generation Sequencing Only, 5116 — 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.