Rett Syndrome Sequence Analysis

Casandra

Casandra Test Code QD64375Version 1 (DRAFT)

Performing Lab

Lab Quest DiagnosticsLab Test ID 15088CPT Code 81302

Rett Syndrome Sequence Analysis

Also known as: methyl-CpG-binding protein 2 (MeCP2)

Clinical Use

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Use

Sequence analysis of the entire amino acid coding region (exons 1‑4) and splice junction sites of the MECP2 gene will detect disease‑causing variants in approximately 80% of individuals with classic Rett Syndrome. This test will establish a clinical diagnosis of Rett Syndrome in females. This test will also establish the etiology of severe neonatal encephalopathy in males.

Special Instructions

Includes physician attestation of informed consent if ordering facility is located in specified states (AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD, VT) or test performed in MA. Reflex dosage testing (CPT 88235) added for amniotic fluid or CVS if not already ordered.

Limitations

The sequencing test can only detect mutations in about 80% of patients with classic Rett syndrome. Therefore, a negative test result does not rule out the clinical diagnosis of Rett syndrome.

Test Details