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Test Code
C5180
Test Name
Vascular Malformations 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 conditions that cause vascular malformations. Vascular anomalies are congenital defects of the vasculature and they encompass a variety of disorders. Genetic conditions that cause vascular malformations include capillary malformation- arteriovenous malformation and Parkes Weber syndrome, cerebral cavernous malformations, Cowden syndrome, hereditary hemorrhagic telangiectasia, pulmonary hypertension and venous malformations (glomuvenous malformations and cutaneomucosal venous malformations). Recommended for individuals with a personal and/or family history of vascular malformations 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

Vascular anomalies are congenital defects of the vasculature and they encompass a variety of disorders.

Genomics vascular malformation panel consists of genes for capillary malformation- arteriovenous malformation and Parkes Weber syndrome, cerebral cavernous malformations, Cowden syndrome, hereditary hemorrhagic telangiectasia, pulmonary hypertension and venous malformations (glomuvenous malformations and cutaneomucosal venous malformations).

Gene

Disorder

MIM

Inheritance

ACVRL1

Telangiectasia, hereditary hemorrhagic, type 2

600376

AD

BMPR2

Pulmonary hypertension, familial primary, 1, with or without HHT

178600

AD

CAV1

Pulmonary hypertension, primary, 3

615343

AD

CCM2

Cerebral cavernous malformations 2

603284

AD

EIF2AK4

Pulmonary venoocclusive disease 2

234810

AD

ELMO2

Vascular malformation, primary intraosseous

606893

AR

ENG

Telangiectasia, hereditary hemorrhagic, type 1

187300

AD

FOXF1

Alveolar capillary dysplasia with misalignment of pulmonary veins

265380

AD

GATA2

Lymphedema, primary, with myelodysplasia (Emberger syndrome)

614038

AD

GDF2

Telangiectasia, hereditary hemorrhagic, type

615506

AD

GLMN

Glomuvenous malformations

138000

AD

KCNK3

Pulmonary hypertension, primary, 4

615344

AD

KRIT1

Cerebral cavernous malformations 1

116860

AD

PDCD10

Cerebral cavernous malformations 3

603285

AD

PTEN

Cowden syndrome 1

158350

AD

RASA1

Capillary malformation-arteriovenous malformation

Parkes Weber syndrome

608354

608355

AD

SMAD4

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

175050

AD

SMAD9

Pulmonary hypertension, primary, 2

615342

AD

TEK

Venous malformations, multiple cutaneous and mucosal

600195

AD
Testing Schedule
Monday-Friday
Genes
ACVRL1, BMPR2, CAV1, CCM2, EIF2AK4, ELMO2, ENG, FOXF1, GATA2, GDF2, GLMN, KCNK3, KRIT1, PDCD10, PTEN, RASA1, SMAD4, SMAD9, TEK
Disease Group
Cardiovascular 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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