Number of Panel Genes: 
25

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.read more

Tests Available

25 Panel Genes: ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MFAP5, MED12, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, FOXE3, LOX, MAT2A
Next Generation Sequencing
$1,490
Test Code: 5076
Deletion / Duplication
$1,300
Test Code: 5077
HDT Array test is not available for FLNA & MYLK
NGS/Del Dup Comprehensive
$2,640
Test Code: 5078
HDT Array test is not available for FLNA & MYLK

Test Details

Technical Information
Panel Genes: 
ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MFAP5, MED12, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, FOXE3, LOX, MAT2A
Disease Groups: 
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
MIM: 
154700
609192
610168
613795
614816
610380
132900
608967
611788
154700
121050
236200
309520
109730
615436
613780
182212
208050
175050
130050
Billing
Price: 
$1,490
CPT Codes: 
81410 x 1
Ordering
SKU:
5076
Turnaround Time: 
Typically 3 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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