ARX RELATED DISORDERS
DNA ANALYSIS

Mutations in the ARX gene located on chromosome Xp21.1 are associated with a spectrum of X-linked mental retardation disorders. These include non-specific X-linked mental retardation, Partington X-linked mental retardation syndrome, X-linked infantile spasm syndrome, and X-linked lissencephaly with ambiguous genitalia. Our laboratory offers sequence analysis of the ARX gene for patients with a clinical diagnosis for these disorders. In families wherein an ARX gene mutation has been identified, targeted sequence analysis can be offered for carrier testing and prenatal diagnosis.

Reasons For Referral:

Confirmation of clinical diagnosis in affected individuals.
Carrier testing for familial mutation.
Prenatal diagnosis for familial mutation.

Testing Methodology:

Bi-directional sequence analylsis of the entire ARX gene coding region is performed using automated fluorescence sequencing in a 96-capillary format.

Sensitivity:

Analytical: 99%

Specimen Requirements:

Blood: EDTA (purple-top) tubes: Adults: 10 mls; Child: 5 mls
Requisition form must accompany specimen. Prior to any genetic testing, we recommend genetic counseling and request that the subject, or their legal guardian, sign our consent form and submit it with the sample. To receive our forms and information about prenatal testing, please contact our laboratory.

Turnaround Time:

4 weeks

CPT Codes and Prices:

Index: 83904x25, 83912, 83909x25, 83898x10, 83894, 83891
Known Familial Mutation: 83904x4, 83912, 83909x4, 83898x2, 83894, 83891

References:

1. Kitamura, et al. (2002) Nat. Genet. 32: 359-369.
2. Stromme, et al. (2002) Nat. Genet. 30: 441-445.
3. Bienvenu, et al. (2002) Hum. Mol. Genet. 11: 981-991

Shipping Information

Forms:

>> Gene Sequencing Requisition
>> Prenatal Requisition

Test Codes:

Index: 6067
Known Familial Mutation: 6074
Prenatal (Known Familial Mutation Only): 6075