Test Code: 5183

Aarskog-Scott Syndrome: FGD1 Gene Sequencing
Test Code: 5183
Turnaround time: 4 weeks


Aarskog-Scott syndrome (faciogenital dysplasia)



This test is indicated for:

  • Confirmation of a clinical/biochemical diagnosis of Aarskog-Scott syndrome.
  • Carrier testing in adult females with a family history of Aarskog-Scott syndrome.


Next Generation Sequencing: In-solution hybridization of all coding exons is performed on the patient’s genomic DNA. Although some deep intronic regions may also be analyzed, this assay is not mean to interrogate most promoter regions, deep intronic regions, or other regulatory elements, and does not detect single or multi-exon deletions or duplications. Direct sequencing of the captured regions is performed using next generation sequencing.


Clinical Sensitivity:
One study identified FGD1 mutations in 8 of 46 male patients with a clinical diagnosis of Aarskog-Scott syndrome. Mutations in the promoter region, some mutations in the introns, other regulatory element mutations and large deletions will not be detected by this analysis.

Analytical Sensitivity: ~99%.

Results of molecular analysis should be interpreted in the context of the patient’s biochemical phenotype.


Submit only 1 of the following specimen types

* Preferred specimen type: Whole Blood

Type: Whole Blood
Specimen Requirements:
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.

Type: Saliva
Specimen Requirements:
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.


• FGD1 Gene Deletion/Duplication (test code: 2063).
• X-Linked Intellectual Disability panel.
• Known Mutation Analysis (test code: 6875).