Marfan Syndrome, Syndrome, Loeys-Dietz Familial Thoracic Aortic Aneurysms & Dissections

Test Code

C5078

Test Name

Marfan Syndrome, Syndrome, Loeys-Dietz Familial Thoracic Aortic Aneurysms & Dissections

CPT Codes

81410

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 Marfan syndrome, Loeys-Dietz syndrome, and thoracic aortic aneurysm disorder. This panel is designed to detect mutations in genes causing aneurysms of the aorta and its major branches. Recommended for individuals with a personal and/or family history of Marfan syndrome, Loeys-Dietz syndrome, or thoracic aortic aneurysm 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
FTAAD

Description

The Marfan Syndrome, Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysms & Dissections, and Related Disorders NGS Panel is designed to be a cost effective method for detecting mutations in genes causing aneurysms of the aorta and its major branches. Mutations in the genes on this panel cause numerous disorders with variable but often overlapping phenotypes that should be considered in the differential diagnosis of patients presenting with aneurysms. In many instances, different mutations within any gene have been reported to result in variable phenotypes. The genes constituting this panel have been carefully selected so that they are truly representative of those associated with aneurysms of the major vessels.

Gene	Disorder	MIM	Inheritance
ACTA2	Aortic aneurysm, familial thoracic 6 (AAT6) Multisystemic smooth muscle dysfunction syndrome	611788, 613834	AD
BGN	Meester-Loeys syndrome (MRLS)	300989	XL
CBS	Homocystinuria due to cystathionine beta-synthase deficiency	236200	AR
COL3A1	Ehlers-Danlos syndrome, type IV (EDSVASC)	130050	AD
COL5A1	Ehlers-Danlos syndrome, classic type, 1 (EDSCL1)	130000	AD
COL5A2	Ehlers-Danlos syndrome, classic type, 2 (EDSCL2)	130010	AD
FBN1	Marfan syndrome (MFS)	154700	AD
FBN2	Arthrogryposis, distal, type 9 (DA9)	121050	AD
FLNA	Cardiac valvular dysplasia, X-linked (CVD1) Periventricular nodular heterotopia 1 (PVNH1)	314400 300049	XLR XLD
FOXE3	Aortic aneurysm, familial thoracic 11, susceptibility to (AAT11)	617349	AD
LOX	Aortic aneurysm, familial thoracic 10 (AAT10)	617168	AD
LTBP3	Aortic aneurysm and dissection, LTBP3 related	-	AD/AR
MAT2A	MAT2A related aortic aneurysm, familial thoracic	-	AD
MFAP5	Aortic aneurysm, familial thoracic 9 (AAT9)	616166	AD
MED12	Lujan-Fryns syndrome	309520	XLR
MYH11	Aortic aneurysm, familial thoracic 4 (AAT4)	132900	AD
MYLK	Aortic aneurysm, familial thoracic 7 (AAT7)	613780	AD
NOTCH1	Aortic valve disease 1 (AOVD1)	109730	AD
PRKG1	Aortic aneurysm, familial thoracic 8 (AAT8)	615436	AD
SKI	Shprintzen-Goldberg craniosynostosis syndrome (SGS)	182212	AD
SLC2A10	Arterial tortuosity syndrome (ATS)	208050	AR
SMAD2	Arterial aneurysm and dissection, SMAD2 related	617349	AD
SMAD3	Loeys-Dietz syndrome 3 (LDS3)	613795	AD
SMAD4	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT)	175050	AD
TGFB2	Loeys-Dietz syndrome 4 (LDS4)	614816	AD
TGFB3	Loeys-Dietz syndrome 5 (LDS5)	615582	AD
TGFBR1	Loeys-Dietz syndrome 1 (LDS1)	609192	AD
TGFBR2	Loeys-Dietz syndrome 2 (LDS2)	610168	AD

Testing Schedule

Monday-Friday

Genes

FBN1, LTBP3, SMAD2, TGFB3, SMAD4, MAT2A, COL5A2, MED12, SKI, TGFB2, COL3A1, PRKG1, ACTA2, FLNA, LOX, BGN, MYH11, FBN2, TGFBR1, SMAD3, MFAP5, NOTCH1, SLC2A10, MYLK, COL5A1, CBS, TGFBR2, FOXE3

MIM

182212, 175050, 614816, 611788, 610380, 608967, 609192, 208050, 613780, 615436, 132900, 613795, 121050, 154700, 109730, 130050, 309520, 610168, 236200

Lab Tests for Healthy Aging

Find a Location

Our Services

Employee Drug Testing

Role of Genetic Testing in Pediatric Healthcare

The Value of Noninvasive Prenatal Screening (NIPS)

Point of Care Testing

Everything You Need to Know About HIV Testing

Available Job Opportunities

Who We Are