Test Directory

Clear All
Test Code
5378
Test Name
Peeling Skin 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
Description

Peeling skin syndrome is a rare genodermatosis characterized by peeling of the outermost layer of the epidermis, the stratum corneum. Accompanying features may include generalized erythema, pruritus, vesicular lesions, and hair and nail abnormalities. Peeling skin syndrome can be generalized or acral involving palmar, plantar and dorsal surfaces of the hands and feet. The condition can be aggravated by heat, humidity and friction. The age of onset varies from birth to adulthood.

The Peeling skin syndrome NGS panel consists of seven genes: CAST, CDSN, CHST8, CSTA, FLG2, SERPINB8 and TGM5.

Gene

Disorder

MIM

Inheritance

CAST

Peeling skin with leukonychia, acral punctate keratoses,

cheilitis, and knuckle pads (PLACK)

616295

AR

CDSN

Peeling skin syndrome 1 (PSS1)

Hypotrichosis 2 (HYPT2)

270300

146520

AR

AD

CHST8

Peeling skin syndrome 3 (PSS3)

616265

AR

CSTA

Peeling skin syndrome 4 (PSS4)

607936

AR

FLG2

Peeling skin syndrome, FLG2 related

-

AR

SERPINB8

Peeling skin syndrome 5 (PSS5)

617115

AR

TGM5

Peeling skin syndrome 2 (PSS2)

609796

AR

 

 

 

 
Testing Schedule
Monday-Friday
Genes
CAST, CDSN, CHST8, CSTA, FLG2, SERPINB8, TGM5
Disease Group
Hair and Nail disorders, Skin, Tooth
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.
© 2026 HNL Lab Medicine. All rights reserved.