Number of Panel Genes: 
5

Loeys-Dietz syndrome 1 (LDS1; MIM 609192) and 2 (LDS2; MIM 610168) are caused by mutations in the TGFBR1 and TGFBR2 genes respectively. The reported phenotype is highly variable and overlaps considerably with Ehlers-Danlos syndrome IV (EDS IV; MIM 130050) or Marfan syndrome (MFS; MIM 154700). A high percentage of patients have aortic root aneurysm or other arterial aneurysms.read more

Tests Available

5 Panel Genes: TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3
Next Generation Sequencing
$1,000
Test Code: 2208
Deletion / Duplication
$990
Test Code: 2209
NGS/Del Dup Comprehensive
$1,840
Test Code: 2210

Test Details

Technical Information
Panel Genes: 
TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3
Disease Groups: 
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
Craniosynostosis and Craniofacial Disorders
MIM: 
609192
610168
613795
614816
615582
Billing
Price: 
$1,000
CPT Codes: 
81479 x 3
81405 x 2
Ordering
SKU:
2208
Turnaround Time: 
Typically 2 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: a minimum of 3 µg (at a concentration of at least 30 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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