• 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
  • Sample requirements
  • Request a sample kit



ALS11; BTOP; CMT4J; KIAA0274; SAC3; YVS; dJ249I4.1

Associated disorders

The FIG4 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4J (CMT4J) (MedGen UID: 370808) and Yunis-Varon syndrome (MedGen UID: 341818).

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FIG4 is a rare cause of CMT and ALS. The percentage of CMT attributed to pathogenic variants in the FIG4 gene is estimated to be <1%. Pathogenic variants in FIG4 are the only known cause of Yunis-Varon syndrome.

The gene FIG4 encodes the protein Fig4, a ubiquitously expressed phosphatase. Fig4 helps regulate the synthesis and turnover of an important phosphoinositide (phosphatidylinositol-3,5-bisphosphate), which itself has several functions, including membrane and protein trafficking.

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
FIG4 NM_014845.5