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Test Code
C5069
Test Name
Ehlers-Danlos - Syndrome 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 Ehlers-Danlos syndrome (EDS). EDS is a connective tissue disorder characterized by joint hypermobility, skin hyperextensibility and tissue fragility. There are numerous subtypes of EDS each with distinct genetic and clinical findings. Recommended for individuals with a personal and/or family history of Ehlers-Danlos syndrome 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
Alternate Names
EDS
Description

The dominant & recessive Ehlers-Danlos syndrome NGS panel is designed to detect mutations in genes that cause clinical features related to Ehlers-Danlos syndrome (EDS). EDS is a connective tissue disorder characterized by joint hypermobility, skin hyperextensibility and tissue fragility. There are numerous subtypes of EDS each with distinct genetic and clinical findings. Genomics offers several panel options for Ehlers-Danlos syndrome testing including a classic type panel, a core panel, a dominant panel, a recessive panel and a combined dominant and recessive panel. In addition to genes associated with the dominant and recessive forms of EDS, the panels also contain genes for disorders included in the differential diagnosis of EDS.


Dominant EDS Panel 

Gene

Disorder

MIM

Inheritance

C1R

Ehlers-Danlos syndrome, periodontal type 1 (EDSPD1)

130080

AD

C1S

Ehlers-Danlos syndrome, periodontal type 2 (EDSPD2)

617174

AD

COL5A1

Ehlers-Danlos syndrome, classic type, 1 (EDSCL1)

130000

AD

COL5A2

Ehlers-Danlos syndrome, classic type, 2 (EDSCL2)

130010

AD

COL3A1

Ehlers-Danlos syndrome, vascular type (EDSVASC)

130050

AD

COL1A1

Ehlers-Danlos syndrome, arthrochalasia type, 1 (EDSARTH1)

130060

AD

COL1A2

Ehlers-Danlos syndrome, arthrochalasia type, 2 (EDSARTH2)

617821

AD

COL12A1

Bethlem myopathy 2 (BTHLN2)

616471

AD

FLNA

Periventricular nodular heterotopia 1 (PVNH1)

300049

XLD

 

Recessive EDS Panel

Gene

Disorder

MIM

Inheritance

ADAMTS2

Ehlers-Danlos syndrome, dermatosparaxis type (EDSDERMS)

225410

AR

AEBP1

Ehlers-Danlos syndrome, classic-like, 2 (EDSCLL2)

618000

AR

ATP7A

Occipital horn syndrome (OHS)

304150

XLR

B3GALT6

Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2)

615349

AR

B4GALT7

Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1)

130070

AR

CHST14

Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)

601776

AR

COL1A2

Ehlers-Danlos syndrome, cardiac valvular type (EDSCV)

225320

AR

DSE

Ehlers-Danlos syndrome, musculocontractural type, 2 (EDSMC2)

615539

AR

FKBP14

Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (EDSKSCL2)

614557

AR

PLOD1

Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1)

225400

AR

PRDM5

Brittle cornea syndrome 2 (BCS2)

614170

AR

SLC39A13

Ehlers-Danlos syndrome, spondylodysplastic type, 3 (EDSSPD3)

612350

AR

ZNF469

Brittle cornea syndrome 1 (BCS1)

229200

AR
Testing Schedule
Monday-Friday
Genes
COL5A1, PLOD1, DSE, C1S, COL5A2, AEBP1, CHST14, B4GALT7, ADAMTS2, ZNF469, ATP7A, COL1A2, FKBP14, PRDM5, COL3A1, COL1A1, C1R, SLC39A13, B3GALT6, FLNA, COL12A1
MIM
130000, 614505, 130060, 304150, 601776, 612350, 130010, 300537, 225410, 130050, 225400
Disease Group
Cardiovascular Disorders, Connective Tissue, Skin
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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