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University of Iowa Diagnostic Laboratories (UIDL) Department of Pathology Room 5231, RCP Iowa City, Iowa 52242-1181 319-384-7212 Tel 319-384-7213 Fax |
FUKUTIN RELATED PROTEIN (FKRP)
GENE SEQUENCE ANALYSIS INFORMATION
| Background: | DNA sequence variants in the coding region of the fukutin related protein gene (FKRP) are known to cause autosomal recessive limb girdle muscular dystrophy, type 2I and congenital muscular dystrophy, type 1C. The c.826C>A (p.L276I) variant is the most common FKRP gene variant, accounting for approximately 80% of the LGMD2I causing alleles in European and North American patients. A negative FKRP sequence test significantly reduces the likelihood of the diagnosis of LGMD2I or MDC1C. However, because congenital or limb girdle muscular dystrophy demonstrate extensive locus and allelic heterogeneity, a negative test result does not rule out a diagnosis of these disorders when classic clinical findings are present. |
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| Contact Information: |
UIDL Client Services Monday-Friday - 8:00 am-6:30 pm CST Saturday - 8:00 am-1:00 pm CST Phone - 866-844-2522 Fax - 319-384-7213 Technical Test Information Molecular Pathology Laboratory 319-384-9568 Genetic Counseling Christina Trout, RN Division of Medical Genetics 319-356-4017 |