SALL4 Sequencing

SALL4-related disorders include a spectrum of phenotypes including Duane radial ray syndrome (DRRS), acro-renal-ocular syndrome (AROS), and rarely Holt-Oram syndrome. DRRS is characterized by Duane anomaly and radial ray malformations. AROS is characterized by radial ray malformations, renal abnormalities, and ocular abnormalities such as Duane anomaly. Some individuals may have sensorineural hearing loss. SALL4-related disorders are inherited in an autosomal dominant manner and are 95% penetrant depending on the mutation. This laboratory performs Sanger sequencing of the SALL4 gene.

Forms & Docs

Ordering

Place an order

Test Code
S0101

Turn Around Time
3-5 weeks

Billing

CPT Code
81479×1

Ordering Guidance

If there are questions regarding this test, please contact Client Services at 617-553-5880 or clientservices@claritasgenomics.com

Details

Genes Covered
SALL4

Methods
Sanger