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Test Code
1530
Test Name
Ectopia Lentis, Isolated, Autosomal Dominant
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

Isolated ectopia lentis is a genetically heterogenous disorder characterized by dislocation of the lenses in any direction. Inheritance may be autosomal dominant or autosomal recessive. Autosomal dominant cases are caused by mutations in the FBN1 gene (MIM 129600) and many autosomal recessive cases are caused by mutations in the ADAMTSL4 gene (MIM 225100). Isolated ectopia lentis should be discriminated from the ectopia lentis associated with homocystinuria (MIM 236200) caused by cystathionine beta-synthase deficiency. Individuals with homocystinuria typically display a downward dislocation of the lenses. Individuals with isolated ectopia lentis should also be distinguished from patients with Marfan syndrome (MIM 154700). Patients with Marfan syndrome typically have additional systemic features involving the cardiovascular and skeletal systems. In some instances, identical FBN1 mutations have been described in patients with isolated autosomal dominant ectopia lentis and Marfan syndrome. Lens dislocation may also be a feature of autosomal dominant (MIM 608328) or autosomal recessive (MIM 277600) Weill-Marchesani syndrome.
Testing Schedule
Monday-Friday
Genes
FBN1
MIM
129600
Disease Group
Ophthalmology
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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