Invitae Hereditary Fructose Intolerance Test
Use
The Invitae Hereditary Fructose Intolerance Test analyzes the ALDOB gene, where pathogenic variants lead to hereditary fructose intolerance (HFI). This test is indicated for individuals suspected of having HFI based on clinical or laboratory findings. Early diagnosis is crucial for proper management of symptoms, allowing for accurate risk assessment and carrier status identification for at-risk relatives.
Special Instructions
The test analyzes the ALDOB gene for hereditary fructose intolerance. Preferred specimen is whole blood in a purple-top EDTA tube, with alternate specimens including saliva, buccal swab, and gDNA.
Limitations
The analysis covers clinically important regions of the ALDOB gene, including exons and adjacent intronic sequences. It excludes certain non-coding regions unless specified. Detection of certain structural rearrangements and variants in complex sequences may be limited. Factors like hematolymphoid neoplasm or transplant history can affect DNA integrity.
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)