Invitae Alpha Thalassemia X-linked Intellectual Disability Test
Use
This genetic test analyzes the ATRX gene, which is associated with alpha thalassemia X-linked intellectual disability syndrome (ATRX). It helps in confirming a diagnosis and guides treatment, management decisions, and testing of at-risk relatives. ATRX syndrome is characterized by distinctive facial features, severe developmental delays, genital anomalies, intellectual disability, and abnormal hemoglobin H production.
Special Instructions
Ordering requires a specimen collection kit. The preferred specimen is 3mL whole blood in a purple-top EDTA tube. Alternative specimens like saliva, buccal swab, and gDNA can also be submitted. Genetic counseling might be advised for patients and families undergoing genetic testing.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp, and exon-level deletions/duplications. Structural rearrangements, variants in complex architectures, and certain types of copy number events may not be detected. Non-coding regions are generally not covered, and the analysis is based on extracted genomic DNA. Rarely, the analyzed DNA may not represent the constitutional genome due to factors like hematolymphoid neoplasm or recent transfusions.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)