GLI3 related disorders - Greig cephalopolysyndactyly syndrome (GCPS; MIM 175700), Pallister-Hall syndrome (PHS: MIM 146510), polydactyly, postaxial, type A1 (PAPA1; MIM 174200) and polydactyly, preaxial IV (MIM 174700) are allelic, autosomal dominant disorders caused by mutations in the GLI3 gene. GLI3 encodes a zinc finger transcription factor.

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Tests Available

By gene: GLI3
Next Generation Sequencing
$990
Test Code: 1261
Deletion / Duplication
$990
Test Code: 1262
NGS/Del Dup Comprehensive
$1,365
Test Code: 1626

Related Panels
Craniosynostosis NGS panel (25 genes)
NGS $1,495
Del Dup $990
Comp $1,870

Test Details

Technical Information
Genes: 
GLI3
Disease Groups: 
Skeletal Dysplasias
MIM: 
146510
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1261
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: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. 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.

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