Bst1, ISPD3024, MRT42, SPG67

Associated disorders

The PGAP1 gene is associated with autosomal recessive intellectual disability (MedGen UID: 777028). Additionally, the PGA1 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 24482476).

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Invitae tests that include this gene:

The PGAP1 gene encodes a protein localized to the endoplasmic reticulum membrane that plays a role in the maturation of glycosylphosphatidylinositol (GPI), by a chemical modification that allows proteins to be anchored to the cell surface. Disruption of GPI maturation and addition to membrane-bound proteins causes a wide-range of cellular defects, though PGAP1 function appears to be specifically important to normal neurological development in humans.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
PGAP1 NM_024989.3