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Test Code
5205
Test Name
Dyskeratosis Congenita 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
Alternate Names
DKC
Description

Dyskeratosis congenita (DKC) is a genetically heterogeneous multisystemic disorder caused by defective telomerase maintenance. Clinical findings include increased risk for bone marrow failure, malignancies, and pulmonary and hepatic fibrosis. Other typical findings are dysplastic nails, abnormal pigmentation, and oral leukoplakia. Patients with DKC may also have eye abnormalities, dental problems, hair loss or prematurely grey hair, and osteoporosis. Most individuals with DKC have normal psychomotor development and neurologic function. Hoyeraal-Hreidarsson syndrome (HHS) is a severe form of DKC. Individuals with HHS show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, and bone marrow failure. HHS can be caused by mutations in DKC1, RTEL1, TERT and TINF2.

The Dyskeratosis congenita NGS panel consists of 12 genes: ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1 and WRAP53.

 

Gene

Disorder

MIM

Inheritance

ACD

Dyskeratosis congenita, autosomal dominant 6 (DKCA6)

Dyskeratosis congenita, autosomal recessive 7 (DKCA7)

616553

616553

AD

AR

CTC1

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

612199

AR

DKC1

Dyskeratosis congenita, X-linked (DKCX)

305000

XLR

NHP2

Dyskeratosis congenita, autosomal recessive 2 (DKCB2)

613987

AR

NOP10

Dyskeratosis congenita, autosomal recessive 1 (DKCB1)

224230

AR

PARN

Dyskeratosis congenita, autosomal recessive 6 (DKCB6)

Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PFBMFT4)

616353

616371

AR

AD

RTEL1

Dyskeratosis congenita, autosomal recessive 5 (DKCB5)

Dyskeratosis congenita, autosomal dominant 4 (DKCA4)

Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (PFBMFT3)

615190

615190

616373

AR

AD

AD

TERC

Dyskeratosis congenita, autosomal dominant 1 (DKCA1)

Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 (PFBMFT2)

127550

614743

AD

AD

TERT

Dyskeratosis congenita, autosomal dominant 2 (DKCA2)

Dyskeratosis congenita, autosomal recessive 4 (DKCB4)

Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (PFBMFT1)

613989

613989

614742

AD

AR

AD

TINF2

Dyskeratosis congenita, autosomal dominant 3 (DKCA3)

Revesz syndrome

613990

268130

AD

AD

USB1

Poikiloderma with neutropenia (PN)

604173

AR

WRAP53

Dyskeratosis congenita, autosomal recessive 3 (DKCB3)

613988

AR
Testing Schedule
Monday-Friday
Genes
ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53
Disease Group
Liver, Neuromuscular, Pulmonary, Skeletal Disorders, Skin
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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