Test Directory

Clear All
Test Code
5308
Test Name
Hypotrichosis 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

Nonsyndromic hypotrichosis is an inherited disorder affecting the structure and growth of hair. The phenotype of hypotrichosis varies from almost normal hair to complete hair loss. All body hair can be affected or it can be limited to scalp hair. The findings may include hair loss, thinning of the hair, woolly hair, slow hair growth, and thin, fragile, and dry hair.

The hypotrichosis NGS panel consists of eleven genes: APCDD1, CDSN, DSG4, HR, KRT25, KRT71, KRT74, LIPH, LPAR6, RPL21 and SNRPE.

 

Gene

Disorder

MIM

Inheritance

APCDD1

Hypotrichosis 1 (HYPT1)

605389

AD

CDSN

Hypotrichosis 2 (HYPT2)

Peeling skin syndrome 1 (PSS1)

146520

270300

AD

AR

DSG4

Hypotrichosis 6 (HYPT6)

607903

AR

HR

Hypotrichosis 4 (HYPT4)

Alopecia universalis (ALUNC)

Atrichia with papular lesions (APL)

146550

203655

209500

AD

AR

AR

KRT25

Hypotrichosis, KRT25 related

Woolly hair, autosomal recessive 3 (ARWH3)

-

616760

AR

AR

KRT71

Hypotrichosis 13 (HYPT13)

615896

AD

KRT74

Hypotrichosis 3 (HYPT3)

Ectodermal dysplasia 7, hair/nail type (ECTD7)

Woolly hair, autosomal dominant (ADWH) 

613981

614929

194300

AD

AR

AD

LIPH

Hypotrichosis 7 (HYPT7)

604379

AR

LPAR6

Hypotrichosis 8 (HYPT8)

278150

AR

RPL21

Hypotrichosis 12 (HYPT12)

615885

AD

SNRPE

Hypotrichosis 11 (HYPT11)

615059

AD

 

 
Testing Schedule
Monday-Friday
Genes
APCDD1, CDSN, DSG4, HR, KRT25, KRT71, KRT74, LIPH, LPAR6, RPL21, SNRPE
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.