Number of Panel Genes28

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.

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

Gene(s)

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

MIM

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

Methodology

Billing

CPT Code(s)
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.

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.

What's New

October 13, 2021

CTGT.net: A New Website Experience

We've refreshed our look and feel to better meet your needs. 

CTGT's new website is not only user-friendly but also provides more advanced test search capabilities, additional methodologies, and a clean design suited for multi-platform usage.

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September 28, 2021

9 New Tests for Genetic Carrier Screening Panels

CTGT is now offering 9 NEW tests for Genetic Carrier Screening. 
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September 25, 2021

New York State Clinical Laboratory Permit Approval

CTGT is proud to announce that its CLIA licensed and CAP-accredited Pennsylvania laboratory has earned a New York State Department of Health clinical laboratory permit to perform genetic testing for patients residing within the state of New York. 
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September 23, 2021

California Department of Public Health Clinical Laboratory License Approval

CTGT is proud to announce that its CLIA licensed and CAP-accredited Pennsylvania laboratory is now licensed by the California Department of Public Health to perform genetic testing for patients residing within the state of California. 
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September 20, 2021

Patient Insurance Billing, Prior Authorization, and Benefit Investigation

CTGT is dedicated to providing accessible, affordable, and high-quality lab services.
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