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Test Code
C5420
Test Name
Cerebral Small Vessel Disease 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 cerebral small vessel disease. Cerebral small vessel disease consists of a heterogeneous group of clinically overlapping disorders. Brain imaging shows leukoencephalopathy, microbleeds, deep intracerebral hemorrhages, lacunar infarcts, and subcortical infarcts. Clinical findings of small-vessel brain disease can include infantile hemiparesis, seizures, single or recurrent hemorrhagic or ischemic stroke, migraine with aura, cognitive impairment, and dementia. Recommended for individuals with a personal and/or family history of cerebral small vessel disease 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

Cerebral small vessel disease consists of heterogeneous group of clinically overlapping disorders. Brain imaging shows leukoencephalopathy, microbleeds, deep intracerebral hemorrhages, lacunar infarcts, and subcortical infarcts. Clinical findings of small-vessel brain disease can include infantile hemiparesis, seizures, single or recurrent hemorrhagic or ischemic stroke, migraine with aura, cognitive impairment, and dementia.

Gene

Disorder

MIM

Inheritance

COL4A1

Brain small vessel disease 1 with or without ocular anomalies (BSVD1)

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (HANAC)

Microangiopathy and leukoencephalopathy, pontine, autosomal dominant (PADMAL)

175780

611773

618564

AD

AD

AD

COL4A2

Brain small vessel disease 2 (BSVD2)

614483

AD

CTC1

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC1)

612199

AR

GLA

Fabry disease

301500

XL

HTRA1

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 (CADASIL2)

Cerebral arteriopathy, autosomal recessive, with subcortical infarcts

and leukoencephalopathy (CARASIL)

616779

600142

AD

AR

NOTCH3

Cerebral arteriopathy with subcortical infarcts

and leukoencephalopathy 1 (CADASIL1)

125310

AD

TREX1

Vasculopathy, retinal, with cerebral leukodystrophy (RVCL)

192315

AD
Testing Schedule
Monday-Friday
Genes
COL4A1, COL4A2, CTC1, GLA, HTRA1, NOTCH3, TREX1
Disease Group
Craniosynostosis and Craniofacial Disorders, Neuromuscular
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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