Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections

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.

The Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and related disorders NGS panel consists of twenty-eight genes: ACTA2, BGN, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, FOXE3, LOX, LTPB3, MAT2A, MFAP5, MED12, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1 and TGFBR2.

Copy number variation (CNV) analysis of the Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and related disorders genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests, unless otherwise indicated.

 

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

Genes(s)

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

MIM

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

Billing

81410 x 1,81411 x 1

Ordering

Test Code
5078
Additional Test Codes
5076 —Next Generation Sequencing Only, 5077 — Deletion / Duplication Only
Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Prenatal Specimens
Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)
Non-Prenatal Specimens
Whole blood: purple-top (EDTA) tube, minimum of 3 ml Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl) Fibroblasts: 2 confluent T-25 flasks Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Shipping
Ship all specimen types at room temperature by overnight courier. Do not freeze. For more details and to download the required forms, please visit our shipping page.

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. HNL Lab Medicine strongly recommends confirmation of CPT codes with third-party payors and/or the AMA. We assume no responsibility for billing errors due to reliance upon CPT codes provided by HNL Lab Medicine.