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Test Code
5111
Test Name
Osteopetrosis And Dense Bone Dysplasia NGS Panel
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 this disorder. Recommended for individuals with a personal and/or family history of this disorder 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

The Osteopetrosis and Dense bone dysplasia panel consists of twenty-eight genes: AMER1, ANKH, CA2, CLCN7, COL1A1, CTSK, DLX3, FAM20C, FERMT3, GJA1, HPGD, LEMD3, LRP4, LRP5, MTAP, OSTM1, PLEKHM1, PTDSS1, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP. The panel includes both autosomal dominant and autosomal recessive forms of osteopetrosis and dense bone dysplasias.

 

Gene

Disorder

MIM

Inheritance

AMER1

Osteopathia striata with cranial sclerosis (OSCS)

300373

XLD

ANHK

Craniometaphyseal dysplasia, autosomal dominant (CMDD)

123000

AD

CA2

Osteopetrosis, autosomal recessive 3, with renal tubular acidosis (OPTB3)

259730

AR

CLCN7

Osteopetrosis, autosomal dominant 2 (OPTA2)

Osteopetrosis, autosomal recessive 4 (OPTB4)

166600

611490

AD

AR

COL1A1

Caffey disease

114000

AD

CTSK

Pycnodysostosis (PKND)

265800

AR

DLX3

Trichodontoosseous syndrome (TDO)

190320

AD

FAM20C

Raine syndrome (RNS)

259775

AR

FERMT3

Leukocyte adhesion deficiency, type III (LAD3)

612840

AR

GJA1

Craniometaphyseal dysplasia, autosomal recessive (CMDR)

218400

AR

HPGD

Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 (PHOAR1)

259100

AR

LEMD3

Buschke-Ollendorff syndrome (BOS)

166700

AD

LRP4

Sclerosteosis 2 (SOST2)

614305

AD/AR

LRP5

Osteopetrosis, autosomal dominant 1

607634

AD

MTAP

Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMSMFH)

112250

AD

OSTM1

Osteopetrosis, autosomal recessive 5

259720

AR

PLEKHM1

Osteopetrosis, autosomal recessive 6

611466

AR

PTDSS1

Lenz-Majewski hyperostotic dwarfism (LMHD)

151050

AD

SLCO2A1

Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2)

614441

AR

SNX10

Osteopetrosis, autosomal recessive 8 (OPTB8)

615085

AR

SOST

Craniodiaphyseal dysplasia, autosomal dominant (CDD)

Sclerosteosis 1 (SOST1)

Hyperostosis corticalis generalisata

122860

269500

239100

AD

AR

AR

TBXAS1

Ghosal hematodiaphyseal dysplasia (GHDD)

231095

AR

TCIRG1

Osteopetrosis, autosomal recessive 1

259700

AR

TGFB1

Camurati-Engelmann disease (CED)

131300

AD

TNFRSF11A

Osteopetrosis, autosomal recessive 7

612301

AR

TNFRSF11B

Paget disease, juvenile

239000

AR

TNFSF11

Osteopetrosis, autosomal recessive 2

259710

AR

TYROBP

Polycystic lipomembranous osteodysplasia with

sclerosing leukoencephalopathy (PLOSL)

221770

AR
Testing Schedule
Monday-Friday
Genes
AMER1, ANKH, CA2, CLCN7, COL1A1, CTSK, DLX3, FAM20C, FERMT3, GJA1, HPGD, LEMD3, LRP4, LRP5, MTAP, OSTM1, PLEKHM1, PTDSS1, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP
MIM
112250, 114000, 122860, 123000, 131300, 151050, 166600, 166700, 218400, 221770, 231095, 239000, 239100, 259100, 259700, 259710, 259720, 259730, 259775, 265800, 269500, 300373, 607634, 611490, 611497, 612301, 614441, 615085
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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