Invitae Rare Carbohydrate Disorders Panel
Use
The Invitae Rare Carbohydrate Disorders Panel analyzes the FBP1 and SLC5A1 genes. Pathogenic variants in FBP1 lead to a rare carbohydrate disorder fructose-1,6 bisphosphatase deficiency. Pathogenic variants in SLC5A1 lead to glucose-galactose malabsorption (GGM). This panel is useful for the diagnosis of patients whose clinical symptoms or biochemical findings indicate rare carbohydrate disorders. Newborns and infants may present with life threatening symptoms. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of disease-causing variants provides accurate risk assessment and carrier status of at-risk relatives.
Special Instructions
Turnaround time is 10–21 calendar days (14 days on average). New York approved: Yes. Preferred specimen: 3mL whole blood in a purple-top EDTA tube. Alternate specimens: Saliva, buccal swab, and gDNA are also accepted.
Limitations
This assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. However, sensitivity may be marginally reduced for insertions and deletions larger than 15bp but smaller than a full exon. The assay determines copy number at a single exon resolution at virtually all targeted exons. However, some single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements or variants embedded in complex sequence architecture, may not be detected. Sequence changes in non-coding regions are not guaranteed to be covered.
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