Invitae Krabbe Disease Test
Use
Krabbe disease is a rare progressive neurodegenerative lysosomal storage disorder whose main feature is leukodystrophy. The test is intended for babies who test positive on newborn screening and for individuals in whom Krabbe disease is suspected. Screening can also be prompted by abnormal brain MRI images or cerebrospinal fluid protein levels. The disease manifests in early infancy with feeding problems, reflux, irritability, and hypertonicity transitioning to hypotonia. Seizures are common and often lead to early mortality within two years. Stem cell transplantation before symptom onset is the only available treatment, with varied outcomes in later-onset patients.
Special Instructions
New York approved. The test uses next-generation sequencing and deletion/duplication analysis to target the GALC gene, offering full-gene sequencing. Variants outside the targeted regions are not analyzed. The test is customizable with the optional inclusion of the PSAP gene without extra charge.
Limitations
The test provides >99% sensitivity and specificity for SNVs and small indels, but sensitivity may decrease for larger indels up to one exon. Detection of structural rearrangements, such as inversions or translocations, and certain variant types embedded in complex sequence architecture, may not be possible. Variants in non-coding regions or small single-exon copy number events might not be fully resolved due to sequence properties or data quality issues. The assay does not cover mutations related to mosaicism or complex phasing.
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)