Osteogenesis imperfecta core NGS panel

Connective Tissue Gene Tests offers five panel options for osteogenesis imperfecta (OI) testing utilizing NextGen sequencing technology, an OI COL1A1 & COL1A2 panel, an OI core panel, a dominant OI panel, a recessive OI panel and a combined dominant and recessive OI panel.  In addition to genes associated with the autosomal dominant and autosomal recessive forms of OI, the panels also contain genes for disorders included in the differential diagnosis of OI.

The Osteogenesis imperfecta core NGS panel consists of three genes: COL1A1, COL1A2 and IFITM5.

 

Copy number variation (CNV) analysis of the Osteogenesis imperfecta core 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.

 

Osteogenesis imperfecta core panel

Gene Disorder MIM Inheritance
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 I (OI1)
Osteogenesis imperfecta, type II (OI2)
Osteogenesis imperfecta, type III (OI3)
Osteogenesis imperfecta, type IV (OI4)		 166200
166210
259420
166220		 AD
IFITM5 Osteogenesis imperfecta, type V (OI5) 610967 AD

 

 

Genes(s)

IFITM5 COL1A2 COL1A1

Disease Group(s)

Skeletal disorders

MIM

166200 259420 166220 166210

Billing

81408 x 1,81479 x 1

Ordering

Test Code
5234
Additional Test Codes
5232 —Next Generation Sequencing Only, 5233 — 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.