The flexible next generation sequencing (NGS) 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.read more

Tests Available

Panel Genes: ACTA2, COL3A1, FBN1, MYH11, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
Next Generation Sequencing
$450
Test Code: 5001
Test may be ordered with all genes or selected genes (minimum of 4 must be selected). Base pricing is $450 plus the cost of the genes selected.

Test Details

Technical Information
Panel Genes: 
ACTA2, COL3A1, FBN1, MYH11, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
Test Note: 
Test may be ordered with all genes or selected genes (minimum of 4 must be selected). Base pricing is $450 plus the cost of the genes selected.
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
130050
208050
Billing
Price: 
$450
Price Note: 
Total price is $450 plus cost of selected genes: ACTA2 $235; COL3A1 $750; FBN1 $770; MYH11 $720; SLC2A10 $235; SMAD3 $235; TGFB2 $235; TGFBR1 $235; TGFBR2 $235
CPT Codes: 
Ordering
SKU:
5001
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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