Osteogenesis imperfecta NGS panel - Dominant

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.

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

OI, Dominant Panel
Gene
Disorder
MIM
Inheritance
ALPL
Hypophosphatasia, adult
146300
AD
ANO5
Gnathodiaphyseal dysplasia
166260
AD
COL1A1
Ehlers-Danlos syndrome, arthrochalasia type, 1 (EDSARTH1)
Osteogenesis imperfecta, type I (OI1)
Osteogenesis imperfecta, type II (OI2)
Osteogenesis imperfecta, type III (OI3)
Osteogenesis imperfecta, type IV (OI4)
130060
166200
166210
259420
166220
AD
COL1A2
Ehlers-Danlos syndrome, arthrochalasia type, 2 (EDSARTH2)
Osteogenesis imperfecta, type II (OI2)
Osteogenesis imperfecta, type III (OI3)
Osteogenesis imperfecta, type IV (OI4)
617821
166210
259420
166220
AD
IFITM5
Osteogenesis imperfecta, type V (OI5)
610967
AD
P4HB
Cole-Carpenter syndrome 1
112240
AD
PLS3
PLS3 related Bone mineral density quantitative trait locus 18 (BMND18)
300910
XL

 

 

Genes(s)

P4HB ANO5 IFITM5 COL1A2 ALPL COL1A1 PLS3

Disease Group(s)

Skeletal disorders

MIM

610967 146300 166260 112240 166200 259420 166220 166210

Billing

81479 x 1,81408 x 1,81406 x 1

Ordering

Test Code
5099
Additional Test Codes
5097 —Next Generation Sequencing Only, 5098 — 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.