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  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
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FKRP

Alias

LGMD2I; MDC1C; MDDGA5; MDDGB5; MDDGC5

Associated disorders

The FKRP gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A5 (MDDGA5) (MedGen UID:461763), type B5 (MDDGB5) (MedGen UID:335764), and type C5 (MDDGC5) (MedGen UID:339580), and dilated cardiomyopathy (DCM) (MedGen UID:2880).

Pathogenic mutations in FKRP cause an estimated 4% of clinical cases of LGMD and 3-8% of clinical cases of Muscular dystrophy-dystroglycanopathy. A higher percentage occurs in certain Northern European populations due to the presence of a founder mutation. Pathogenic mutations in FKRP cause an unknown percentage of clinical cases of DCM.

FKRP encodes the Fukutin-related protein, a Golgi-localized protein with a role in post-translational modification of dystroglycan.

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
FKRP NM_024301.4