Invitae X-Linked Hypophosphatemia Test
Use
The Invitae X-Linked Hypophosphatemia Test analyzes the PHEX gene, which is associated with the most common genetic form of hypophosphatemia. This test is crucial as X-linked hypophosphatemia is an X-linked dominant condition of renal phosphate wasting caused by pathogenic variants in the phosphate-regulating endopeptidase gene, PHEX. The test aids in diagnosing XLH, demonstrating variable expressivity and complete penetrance in both males and females, with symptoms ranging from limb bowing to short stature and dental issues.
Special Instructions
The test includes full-gene sequencing and deletion/duplication analysis using NGS technology to deliver >99% analytical sensitivity and specificity for various genetic variations. Sequence analysis covers key coding exons and adjacent intronic sequences, though not all non-coding regions are covered. Variants outside specified regions aren't analyzed—contact Invitae for further inquiries.
Limitations
The analysis has >99% sensitivity/specificity for SNVs and indels <15bp but might be reduced marginally for larger indels. Copy number analysis is at single-exon resolution but might miss single exon events in rare cases. Variants such as structural rearrangements or complex architecture sequences may evade detection. Mitochondrial DNA samples from rare neoplasms or patients having undergone marrow transplants might not reflect constitutional genomes. Promoter and some non-coding variants aren't guaranteed coverage.
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)