Number of Panel Genes:
2
Spondyloepimetaphyseal dysplasia with joint laxity type 1, with or without fractures (SEMDJL1; MIM 271640) and spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2; MIM 603546) are clinically related disorders. Common clinical findings include spondyloepimetaphyseal dysplasia, short stature, ligamentous laxity with joint dislocations, midface hypoplasia, and kyphoscoliosis.read more
Tests Available
2 Panel Genes: B3GALT6, KIF22
Next Generation Sequencing
$1,100
Test Code: 2069
|
Deletion / Duplication
$990
Test Code: 2070
|
NGS/Del Dup Comprehensive
$1,300
Test Code: 2071
|
Test Details
Technical Information
Panel Genes:
B3GALT6, KIF22
Disease Groups:
Skeletal Dysplasias
MIM:
271640
603546
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
2069 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.