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Test Code
5144
Test Name
Alport Syndrome 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
Alternate Names
ATS
Description

Alport syndrome is a genetically heterogeneous disorder with autosomal dominant, autosomal recessive and X-linked inheritance. The estimated prevalence is about 1 in 50,000 live births. All forms are caused by mutations in the genes encoding type IV collagen, which is a basement membrane component. Alport syndrome is characterized by a progressive glomerulonephropathy, sensorineural hearing loss and various ocular anomalies. The X-linked form represents about 85% of Alport syndrome cases and is caused by mutations in the COL4A5 gene. About 15% of cases are autosomal recessive, while autosomal dominant inheritance is rare. Diffuse leiomyomatosis with Alport syndrome represents a contiguous gene deletion syndrome involving the COL4A5 and COL4A6 genes.

The Alport syndrome NGS panel consists of four genes: COL4A3, COL4A4, COL4A5 and COL4A6.

 

Gene

Disorder

MIM

Inheritance

COL4A3

Alport syndrome, autosomal dominant

Alport syndrome, autosomal recessive

Hematuria, benign familial

104200

203780

141200

AD

AR

AD

COL4A4

Alport syndrome, autosomal recessive

203780

AR

COL4A5

Alport syndrome, X-linked

301050

XLD

COL4A6

Deafness, X-linked 6

300914

XLR

COL4A5 & COL4A6

Leiomyomatosis, diffuse, with Alport syndrome

308940

XLD
Testing Schedule
Monday-Friday
Genes
COL4A3, COL4A4, COL4A5, COL4A6
Disease Group
Hearing Disorders, Nephrology
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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