Number of Panel Genes:
2
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. Some have cardiac abnormalities including patent ductus or atrial septal defects.read more
Tests Available
2 Panel Genes: TGFBR1, TGFBR2
|
Next Generation Sequencing
Test Code: 1181
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Deletion / Duplication
Test Code: 1571
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NGS/Del Dup Comprehensive
Test Code: 1572
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Test Details
Technical Information
Panel Genes:
TGFBR1, TGFBR2
Disease Groups:
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
Craniosynostosis and Craniofacial Disorders
MIM:
609192
610168
Billing
CPT Codes:
81405 x 1
Ordering
SKU:
1181 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:
- 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
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- 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.
Related Tests
| Disorder |
Gene |
|
|---|---|---|
| Loeys-Dietz syndrome 1 | TGFBR1 | |
| Loeys-Dietz syndrome 2 | TGFBR2 |