Invitae Niemann-Pick Disease Types A and B Panel
Use
The Invitae Niemann-Pick Disease Types A and B Test analyzes the SMPD1 gene, which causes both conditions. SMPD1 encodes the lysosomal enzyme acid sphingomyelinase (ASM), and varying degrees of residual enzyme activity results in a clinical spectrum of acid sphingomyelinase deficiency. Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB) are different manifestations along this clinical continuum and are due to differing amounts of residual ASM activity. This panel is indicated for any individual in whom NPA or NPB is suspected based on clinical or laboratory findings. Genetic testing of SMPD1 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
Preferred specimen is 3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA). Saliva, buccal swab, and gDNA are also accepted. Request a specimen collection kit if needed.
Limitations
The analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence. Variants outside these regions are not analyzed. >99% analytical sensitivity and specificity is achieved for SNVs, insertions, and deletions <15bp, and exon-level deletions and duplications. Some limitations for larger insertions/deletions and certain types of variants may exist. Rare situations may also prevent single-exon copy number analysis. Not all promoter, non-coding exon, and non-coding region sequence changes are covered. Contact client services for specific details.
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)
Other tests from different labs that may be relevant