Invitae Galactosemia Panel
Use
The Invitae Galactosemia Panel analyzes genes involved in galactose metabolism. It is used for diagnosing patients with clinical symptoms such as hepatomegaly, jaundice, neonatal sepsis, cataracts, and elevated galactose metabolites. It aids in confirming disorders of galactose metabolism as indicated by abnormal newborn screening results or biochemical findings.
Special Instructions
Consult the test definition on Invitae’s website for details regarding regions or types of variants covered or excluded. Contact client services for questions about analysis limitations, such as structural rearrangements or mosaicism. Note: Sequence changes in non-coding regions may not be guaranteed.
Limitations
The test provides >99% analytical sensitivity and specificity for SNVs, indels 15bp but smaller than a full exon may be reduced. Single-exon copy number events might not be analyzed due to sequence properties or data quality. Structural rearrangements, such as inversions and translocations, may not be detected. Detection limitations exist for non-coding regions unless explicitly specified.
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)