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Test Code
1714
Test Name
Cutis Laxa 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
Description

Cutis laxa is a genetically heterogeneous group of disorders that can be inherited in autosomal dominant or recessive manner. Autosomal dominant cutis laxa is primarily characterized by loose, redundant skin without hyperelasticity. Aortic dilation, inguinal hernias, and pulmonary emphysema are other common findings. Cardiac valve abnormalities, hoarse voice, and mild facial dysmorphism, including a beaked nose and long philtrum, have also been reported.

The cutis laxa NGS panel consists of nine genes: ALDH18A1, ATP6V0A2, ATP6V1A , ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4 and PYCR1.

 

Gene

Disorder

MIM

Inheritance

ALDH18A1

Cutis laxa, autosomal dominant 3 (ADCL3)

Cutis laxa, autosomal recessive, type IIIA (ARCL3A)

616603

219150

AD

AR

ATP6V0A2

Cutis laxa, autosomal recessive, type IIA (ARCL2A)

Wrinkly skin syndrome (WSS)

219200

278250

AR

AR

ATP6V1A

Cutis laxa, autosomal recessive, type IID (ARCL2D)

617403

AR

ATP6V1E1

Cutis laxa, autosomal recessive, type IIC (ARCL2C)

617402

AR

EFEMP2

Cutis laxa, autosomal recessive, type IB (ARCL1B)

614437

AR

ELN

Cutis laxa, autosomal dominant 1 (ADCL1)

Supravalvular aortic stenosis (SVAS)

123700

185500

AD

AD

FBLN5

Cutis laxa, autosomal dominant 2 (ADCL2)

Cutis laxa, autosomal recessive, type IA (ARCL1A)

614434

219100

AD

AR

LTBP4

Cutis laxa, autosomal recessive, type IC (ARCL1C)

613177

AR

PYCR1

Cutis laxa, autosomal recessive, type IIB (ARCL2B)

Cutis laxa, autosomal recessive, type IIIB (ARCL3B)

612940

614438

AR

AR
Testing Schedule
Monday-Friday
Genes
ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4, PYCR1
Disease Group
Dysmorphology, Hair and Nail 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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