X-Linked Adrenoleukodystrophy (X-ALD) Newborn Screening Reflex Sponsored Testing Program
Use
The X-ALD Newborn Screening Reflex test is vital for early detection and management of X-Linked Adrenoleukodystrophy in newborns who test positive on initial state newborn screening. It also serves as an important tool for screening blood relatives of patients with Peroxisome Biogenesis Disorder - Zellweger Spectrum Disorder. Early diagnosis can significantly impact management and treatment decisions, potentially improving outcomes for affected individuals.
Special Instructions
Testing is available at no cost under the sponsored program and must be ordered by a qualified healthcare provider. The program also provides access to pre-test and post-test genetic counseling at no cost to eligible patients.
Limitations
This test has not been cleared or approved by the US Food and Drug Administration (FDA). There might be limitations in detecting very rare variants outside the covered 26 genes or in samples contaminated with foreign DNA, particularly buccal swab specimens.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 ml - 5 ml
Minimum Volume
1 ml for small infants
Container
EDTA (purple top tube) or ACD (yellow top tube)
Storage Instructions
Stable for up to 8 days at room temperature or refrigerated; frozen for up to 1 month
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 8 days |
| Refrigerated | 8 days |
| Frozen | 1 month |