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Test Code
5262
Test Name
Marfan Syndrome Syndrome And Loeys-Dietz Core 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
  • MFS
  • LDS
Description

Marfan syndrome and Loeys-Dietz syndrome are autosomal dominant disorders that affect numerous organs including the bones, eyes, lungs, skin and cardiovascular system. The most serious consequence of these disorders is progressive dilatation of the aortic root and the potential for dissection.

The Marfan syndrome and Loeys-Dietz syndrome core NGS panel consists of three genes: FBN1, TGFBR1 and TGFBR2.

Gene

Disorder

MIM

Inheritance

FBN1

Acromicric dysplasia (ACMICD)

Ectopia lentis, familial (ECTOL1)

Geleophysic dysplasia 2 (GPHYSD2)

Marfan lipodystrophy syndrome (MFLS)

Marfan syndrome (MFS)

MASS syndrome

Stiff skin syndrome (SSKS)

Weill-Marchesani syndrome 2, dominant (WMS2)

102370

129600

614185

616914

154700

604308

184900

608328

AD

AD

AD

AD

AD

AD

AD

AD

TGFBR1

Loeys-Dietz syndrome 1 (LDS1)

609192

AD

TGFBR2

Loeys-Dietz syndrome 2 (LDS2)

610168

AD
Testing Schedule
Monday-Friday
Genes
FBN1, TGFBR1, TGFBR2
Disease Group
Cardiovascular Disorders, Connective Tissue
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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