Geleophysic dysplasia 1, geleophysic dysplasia 2 and acromicric dysplasia - Geleophysic dysplasia is a genetically heterogeneous disorder caused by autosomal recessive mutations in the ADAMTSL2 gene (GPHYSD1; MIM 231050) or autosomal dominant mutations in exons 41 and 42 of the FBN1 gene (GPHYSD2; MIM 614185). Typical findings in GPHYSD1 and GPHYSD2 include: mild facial abnormalities consisting of upturned corners of theread more
Tests Available
By gene: ADAMTSL2
Next Generation Sequencing
$900
Test Code: 1156
|
Deletion / Duplication
$900
Test Code: 1157
|
NGS/Del Dup Comprehensive
$1,100
Test Code: 1553
|
Test Details
Technical Information
Genes:
ADAMTSL2
Disease Groups:
Skeletal Dysplasias
MIM:
231050
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1156 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.