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Test Code
5093
Test Name
Ichthyosis 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

Inherited ichthyoses are clinically and genetically heterogeneous group of disorders of cornification. Ichthyosis vulgaris and X-linked recessive ichthyosis, are the most common ichthyoses. In these disorders, scaling of the skin usually begins after 2 to 6 months. The autosomal recessive congenital ichthyoses (ARCI) cause the phenotype referred to as collodion baby with symptoms usually present at birth. The major types of keratinopathic icthyosis are epidermolytic hyperkeratosis and ichthyosis bullosa Siemens. Genes related to other rare forms of ichthyosis and peeling skin syndrome are also present in this panel.

The Ichthyosis NGS panel consists of thirty-two genes: ABCA12, ALOX12B, ALOXE3, CASP14, CAST, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, FLG2, GJA1, GJB3, GJB4, KDSR, KRT1, KRT10, KRT2, KRT83, LIPN, LOR, MBTPS2, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, SULT2B1, TGM1 and TGM5.

 

Gene

Diagnosis

MIM

Inheritance

ABCA12

Ichthyosis, congenital, autosomal recessive 4A (ARCI4A)

Ichthyosis, autosomal recessive 4B (harlequin) (ARCI4B)

601277

242500

AR

AR

ALOX12B

Ichthyosis, congenital, autosomal recessive 2 (ARCI2)

242100

AR

ALOXE3

Ichthyosis, congenital, autosomal recessive 3 (ARCI3)

606545

AR

CASP14

Ichthyosis, congenital, autosomal recessive 12 (ARCI12)

617320

AR

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

CERS3

Ichthyosis, congenital, autosomal recessive 9 (ARCI9)

615023

AR

CHST8

Peeling skin syndrome 3 (PSS3)

616265

AR

CSTA

Peeling skin syndrome 4 (PSS4)

607936

AR

CYP4F22

Ichthyosis, congenital, autosomal recessive 5 (ARCI5)

604777

AR

FLG

Ichthyosis vulgaris

146700

AD / AR

FLG2

Peeling skin syndrome, FLG2 related

-

AR

GJA1

Erythrokeratodermia variabilis et progressiva 3 (EKVP3)

617525

AD

GJB3

Erythrokeratodermia variabilis et progressiva 1 (EKVP1)

133200

AD / AR

GJB4

Erythrokeratodermia variabilis et progressiva 2 (EKVP2)

617524

AD

KDSR

Erythrokeratodermia variabilis et progressiva 4 (EKVP4)

617526

AR

KRT1 & KRT10

Epidermolytic hyperkeratosis (EHK)

113800

AD

KRT2

Ichthyosis bullosa of Siemens (IBS)

146800

AD

KRT83

Erythrokeratodermia variabilis et progressiva 5 (EKVP5)

617756

AR

LIPN

Ichthyosis, congenital, autosomal recessive 8 (ARCI8)

613943

AR

LOR

Vohwinkel syndrome, variant form

604117

AD

MBTPS2

IFAP syndrome with or without BRESHECK syndrome

Keratosis follicularis spinulosa decalvans, X-linked (KFSDX)

308205

308800

XLR

XLR

NIPAL4

Ichthyosis, congenital, autosomal recessive 6 (ARCI6)

612281

AR

PNPLA1

Ichthyosis, congenital, autosomal recessive 10 (ARCI10)

615024

AR

POMP

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK)

601952

AR

SERPINB8

Peeling skin syndrome 5 (PSS5)

617115

AR

ST14

Ichthyosis, congenital, autosomal recessive 11 (ARCI11)

602400

AR

STS

Ichthyosis, X-linked (XLI)

308100

XLR

SULT2B1

Ichthyosis, congenital, autosomal recessive 14 (ARCI14)

617571

AR

TGM1

Ichthyosis, congenital, autosomal recessive 1 (ARCI1)

242300

AR

TGM5

Peeling skin syndrome 2 (PSS2)

609796

AR

 

 
Testing Schedule
Monday-Friday
Genes
ABCA12, ALOX12B, ALOXE3, CASP14, CAST, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, FLG2, GJA1, GJB3, GJB4, KDSR, KRT1, KRT10, KRT2, KRT83, LIPN, LOR, MBTPS2, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, SULT2B1, TGM1, 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.
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