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Test Code
5381
Test Name
Progeroid Syndromes And Related Disorders NGS Panel
CPT Codes
81406, 81408, 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

Progeroid syndromes and related disorders consist of a wide variety of conditions that are characterized by premature aging or have features of premature aging. Typical features include aged appearance due to reduced subcutaneous fat, wrinkled skin, loose redundant skin, prominent veins, and thin, sparse hair. The more severe progeria findings, premature death due to cardiovascular problems, renal failure or cancer susceptibility, are present in some of these disorders.

The progeroid syndromes and related disorders NGS panel consists of twenty-one genes: AGPAT2, ALDH18A1, B3GALT6, B4GALT7, BANF1, BSCL2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, PYCR1, RECQL4, SLC25A24, WRN and ZMPSTE24.

Gene

Disorder

MIM

Inheritance

AGPAT2

Lipodystrophy, congenital generalized, type 1 (CGL1)  

608594

AR

ALDH18A1

Cutis laxa, autosomal dominant 3 (ADCL3)   

Cutis laxa, autosomal recessive, type IIIA (ARCL3A)

616603

219150

AD

AR

B3GALT6

Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2)

615349

AR

B4GALT7

Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1)

130070

AR

BANF1

Nestor-Guillermo progeria syndrome (NGPS)

614008

AR

BSCL2

Lipodystrophy, congenital generalized, type 2 (CGL2)      

269700

AR

ERCC2

Xeroderma pigmentosum, complementation group D (XPD)

278730

AR

ERCC3

Xeroderma pigmentosum, complementation group B (XPB)

610651

AR

ERCC4

Xeroderma pigmentosum, complementation group F (XPF)

278760

AR

ERCC5

Xeroderma pigmentosum, complementation group G (XPG)

278780

AR

ERCC6

Cockayne syndrome B (CSB)

133540

AR

ERCC8

Cockayne syndrome A (CSA)

216400

AR

FBN1

Marfan lipodystrophy syndrome (MFLS)

616914

AD

LMNA

Hutchinson-Gilford progeria (HGPS)

Mandibuloacral dysplasia (MADA)

176670

248370

AD / AR

AR

PDGFRB

Premature aging syndrome, Penttinen type (PENTT)

601812

AD

POLD1

Mandibular hypoplasia, deafness, progeroid features,

and lipodystrophy syndrome (MDPL)

615381

AD

PYCR1

Cutis laxa, autosomal recessive, type IIB (ARCL2B)

612940

AR

RECQL4

Rothmund-Thomson syndrome (RTS)

268400

AR

SLC25A24

Fontaine progeroid syndrome

612289

AD

WRN

Werner syndrome (WRN)

277700

AR

ZMPSTE24

Mandibuloacral dysplasia with type B lipodystrophy (MADB)

608612

AR

 

 

 

 
Testing Schedule
Monday-Friday
Genes
AGPAT2, ALDH18A1, B3GALT6, B4GALT7, BANF1, BSCL2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, PYCR1, RECQL4, SLC25A24, WRN, ZMPSTE24
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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