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  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
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AP4B1

Alias

BETA-4; CPSQ5; SPG47

Associated disorders

The AP4B1 gene is associated with autosomal recessive hereditary spastic paraplegia 47 (SPG47) (MedGen UID: 481368).

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AP4B1

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Invitae tests that include this gene:

AP4B1 is a rare cause of hereditary spastic paraplegia, and the percentage of HSP attributed to pathogenic variants identified in AP4B1 is unknown.

The AP4B1 gene encodes the beta-1 subunit of the heterotetrameric adaptor-related protein (AP) complex 4. AP complexes mediate the sorting of membrane proteins in secretory and endocytic pathways. The AP4B1 gene has been reported to be expressed in skeletal muscle and brain tissue.

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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

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
AP4B1 NM_006594.3