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Test Code
C5102
Test Name
Osteogenesis Imperfecta NGS Panel - Dominant & Recessive
CPT Codes
81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of Osteogenesis Imperfecta. Osteogenesis Imperfecta is characterized by deformities of the bones including bones fractures with minimal or absent trauma, discoloration of the sclera which may be blue or grey, variable dentinogenesis imperfecta and hearing loss in the adult years. The clinical features of Osteogenesis Imperfecta range in severity from perinatally lethal with severe skeletal deformities, to nearly asymptomatic individuals with a mild predisposition to fractures. Recommended for individuals with a personal and/or family history of Osteogenesis Imperfecta to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens


Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)


Prenatal Specimens

Either specimen type below is acceptable.


Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.


NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Description

Genomics 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.


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

 

 

 

 

 

 

 

 

 

 

OI Recessive Panel

Gene

Disorder

MIM

Inheritance

SERPINF1

Osteogenesis imperfecta, type VI (OI6)

613982

AR

CRTAP

Osteogenesis imperfecta, type VII (OI7)

610682

AR

P3H1 (LEPRE1)

Osteogenesis imperfecta, type VIII (OI8)

610915

AR

PPIB

Osteogenesis imperfecta, type IX (OI9)

259440

AR

SERPINH1

Osteogenesis imperfecta, type X (OI10)

613848

AR

FKBP10

Osteogenesis imperfecta, type XI (OI11)

Bruck syndrome 1 (BRKS1)

610968

259450

AR

SP7

Osteogenesis imperfecta, type XII (OI12)

613849

AR

BMP1

Osteogenesis imperfecta, type XIII (OI13)

614856

AR

TMEM38B

Osteogenesis imperfecta, type XIV (OI14)

615066

AR

WNT1

Osteogenesis imperfecta, type XV (OI15)

615220

AR

CREB3L1

Osteogenesis imperfecta, type XVI (OI16)

616229

AR

SPARC

Osteogenesis imperfecta, type XVII (OI17)

616507

AR

ALPL

Hypophosphatasia, adult

Hypophosphatasia, childhood

Hypophosphatasia, infantile

146300

241510

241500

AR

LRP5

Osteoporosis-pseudoglioma syndrome (OPPG)

259770

AR

MBTPS2

Osteogenesis imperfecta, MBTPS2 related

-

XLR

PLOD2

Bruck syndrome 2 (BRKS2)

609220

AR

PLS3

PLS3 related Bone mineral density quantitative trait locus 18 (BMND18)

300910

XL

SEC24D

Cole-Carpenter syndrome 2 (CLCRP2)

616294

AR

TAPT1

Osteochondrodysplasia, complex lethal,

Symoens-Barnes-Gistelinck type (OCLSBG)

616897

AR

XYLT2

Spondyloocular syndrome (SOS)

605822

AR

 

 

 
Testing Schedule
Monday-Friday
Genes
CREB3L1, SERPINF1, ALPL, TAPT1, CRTAP, SP7, WNT1, P4HB, P3H1, IFITM5, LRP5, SPARC, ANO5, PPIB, SERPINH1, SEC24D, FKBP10, COL1A2, XYLT2, COL1A1, MBTPS2, TMEM38B, PLS3, PLOD2, BMP1
MIM
613982, 610968, 241500, 614856, 241510, 166200, 613849, 259440, 259420, 610967, 615066, 609220, 610915, 615220, 610682, 166220, 166210, 613848, 146300
Disease Group
Skeletal Disorders
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. View the Terms.
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