Weill-Marchesani syndrome (WMS) is characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including ectopia lentis, severe myopia, glaucoma, and microspherophakia. Additionally, some patients have cardiac valvular abnormalities. Weill-Marchesani syndrome 1 (WMS1; MIM 277600) is an autosomal recessive disorder caused by mutations in the ADAMTS10 gene. Weill-Marchesaniread more
Tests Available
By gene: FBN1
Next Generation Sequencing
$900
Test Code: 1373
|
Deletion / Duplication
$900
Test Code: 1374
|
NGS/Del Dup Comprehensive
$1,100
Test Code: 1685
|
Test Details
Technical Information
Genes:
FBN1
Disease Groups:
Eye Disorders
Skeletal Dysplasias
MIM:
608328
Billing
CPT Codes:
81408 x 1
Ordering
SKU:
1373 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.