Variant Names:
Ferguson-Smith disease
Multiple self-healing squamous epithelioma (MSSE; MIM 132800), also known as Ferguson-Smith disease, is an autosomal dominant skin disorder caused by mutations in TGFBR1. While Loeys-Dietz syndrome (LDS1A; MIM609192) and thoracic aortic aneurysms (AAT5; MIM 608967) result from gain of function mutations in TGFBR1, MSSE appears to be due to a loss of function of the TGFBR1 gene. Reported mutations include missense changes in exon 2 within the extracellularread more
Tests Available
By gene: TGFBR1
Sanger Sequencing
$600
Test Code: 1590
|
Deletion / Duplication
$900
Test Code: 1591
|
NGS/Del Dup Comprehensive
$1,100
Test Code: 1592
|
Test Details
Technical Information
Genes:
TGFBR1
Disease Groups:
Skin, Tooth, Nail and Hair Disorders
MIM:
132800
Billing
CPT Codes:
81405 x 1
Ordering
SKU:
1590 Turnaround Time:
Typically 1 to 2 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.