SOX3 Repeat Expansion Testing
Description
Pathogenic polyalanine repeat expansions within the first exon of the SOX3 gene have been associated with X-linked panhypopituitarism (PHPX) and intellectual developmental disorder with isolated growth hormone deficiency (XLMR).
Pathogenicity is dependent upon polyalanine repeat length according to the following ranges:
Normal Alleles | Mutable Normal Alleles | Intermediate/Uncertain Alleles | Reduced Penetrance Alleles | Full Penetrance Alleles |
15 | - | 16-21 | - | 22 or more |
Tests That Analyze SOX3 Repeats
- Genomic Unity® 2.0
- Genomic Unity® Whole Genome Analysis
- Genomic Unity® Lightning Genome Analysis – Neonatal
- Genomic Unity® Lightning Genome Analysis – Pediatric
- Genomic Unity® Lightning Genome Analysis – Standard
- Genomic Unity® Exome Plus Analysis
- Genomic Unity® Exome Analysis
- IriSight® Comprehensive Analysis – Prenatal