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.
read moreTests Available
By gene: GLI3
Next Generation Sequencing
Test Code: 1272
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Deletion / Duplication
Test Code: 1273
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NGS/Del Dup Comprehensive
Test Code: 1629
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Related Panels
Test Details
Technical Information
Genes:
GLI3
Disease Groups:
Skeletal Dysplasias
MIM:
174700
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1272 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.