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Test Code
5123
Test Name
Skeletal Dysplasia Extended 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

Genomics 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 extended NGS panel consists of nineteen genes: ARSL, COL10A1, COL11A1, COL11A2, DDR2, EBP, FLNB, HSPG2, LBR, LIFR, MMP9, MMP13, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC35D1 and TRPV4.

Gene

Disorder

MIM

Inheritance

ARSL

Chondrodysplasia punctata, X-linked recessive (CDPX1)

302950

XL

COL10A1

Metaphyseal chondrodysplasia, Schmid type (MCDS)

156500

AD

COL11A1

Fibrochondrogenesis 1 (FBCG1)

228520

AR

COL11A2

Fibrochondrogenesis 2 (FBCG2)

614524

AR

DDR2

Spondylometaepiphyseal dysplasia, short limb-hand type

271665

AR

EBP

Chondrodysplasia punctata, X-linked dominant (CDPX2)

302960

XL

FLNB

Atelosteogenesis, type I and III (AO1)

Atelosteogenesis, type II (AO2)

Boomerang dysplasia

108720

108721

112310

AD

HSPG2

Dyssegmental dysplasia, Silvermann-Handmaker type (DDSH)

Schwartz-Jampel syndrome, type 1 (SJS1)

224410

255800

AR

LBR

HEM skeletal dysplasia / Greenberg dysplasia (GRBGD)

215140

AR

LIFR

Stuve-Wiedemann syndrome / Schwartz-Jampel syndrome type 2

601559

AR

MMP9

Metaphyseal anadysplasia 2 (MANDP2)

613073

AR

MMP13

Metaphyseal anadysplasia 1 (MANDP1) (Spondyloepimetaphyseal dysplasia, missouri type)

Metaphyseal dysplasia, Spahr type (MDST)

602111

250400

AD

AR

NSDHL

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)

308050

XLD

PEX7

Rhizomelic chondrodysplasia punctata, type 1 (RCDP1)

215100

AR

PTH1R

Metaphyseal chondrodysplasia, Murk Jansen type

Chondrodysplasia, Blomstrand type (BOCD)

156400

215045

AD

AR

RMRP

Anauxetic dysplasia (ANXD1)

Cartilage-hair hypoplasia (CHH)

Metaphyseal dysplasia without hypotrichosis (MDWH)

607095

250250

250460

AR

SBDS

Shwachman-Diamond syndrome 1 (SDS1)

260400

AR

SLC35D1

Schneckenbecken dysplasia (SHNKND)

269250

AR

TRPV4

Metatropic dysplasia

Parastremmatic dwarfism

156530

168400

AD
Testing Schedule
Monday-Friday
Genes
ARSL, COL10A1, COL11A1, COL11A2, DDR2, EBP, FLNB, HSPG2, LBR, LIFR, MMP13, MMP9, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC35D1, TRPV4
MIM
108720, 108721, 112310, 156400, 156530, 168400, 215045, 215100, 215140, 224410, 228520, 255800, 269250, 271665, 302950, 302960, 308050, 601559, 614524
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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