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. 
  
  
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
10/08