Aarskog-Scott Syndrome: FGD1 Gene Deletion/Duplication
Test Code: 2063
Turnaround time: 2 weeks
Aarskog-Scott syndrome (faciogenital dysplasia)
This test is indicated for:
- Confirmation of a clinical/biochemical diagnosis of Aarskog-Scott syndrome in an individual in whom sequencing analysis was negative.
- Carrier testing in adult females with a family history of Aarskog-Scott syndrome in whom sequencing analysis was negative.
DNA isolated from peripheral blood is hybridized to a CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes which cover the entire genomic region.
Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations.
Results of molecular analysis must be interpreted in the context of the patient’s clinical and/or biochemical phenotype.
Submit only 1 of the following specimen types
* Preferred specimen type: Whole Blood
Type: Whole Blood
In EDTA (purple top) or ACD (yellow top) tube: 3-5 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
OrageneTM Saliva Collection kit (available through CEN4GEN) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
• Aarskog-Scott Syndrome: FGD1 Gene Sequencing (test code: 5183).
• X-Linked Intellectual Disability panel.