|FKRP (Fukutin-Related Protein) Gene Sequencing||
Analysis of the entire coding region: Sequence analysis
Polymerase chain reaction (PCR)
|Container Type||Container Size||Specimen Volume|
Purple tube (EDTA)
|4 mL||4 mL-8 mL|
Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)
- Do not freeze
- Do not centrifuge
Reasons for Rejection
- Frozen specimen
- Wrong collection tube
- Centrifuged specimen
- Clotted specimen
- Delayed or improper handling
Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended but not required. If available, please also submit muscle biopsy results.
This test is a full gene sequencing analysis of the FKRP gene. Presence of a pathogenic variant (mutation) in both alleles of this gene causes 3 different forms of autosomal recessive muscular dystrophy phenotypes in the dystroglycanopathy spectrum (MDDG):
- MDDG type A5 which is a severe congenital form with brain and eye anomalies.
- MDDG type B5 which is a less severe congenital form with or without intellectual disability.
- MDDG type C5 which is a milder limb-girdle form, previously known as limb-girdle muscular dystrophy type 2I (LGMD2I). MDDG type C5 is often associated with a European founder mutation (c.826C > A, p.Leu276Ile) and homozygotes for this mutation often have mild weakness and elevated serum CK levels. Other mutations in FKRP are known to cause merosin-deficient congenital muscular dystrophy, such as MDDG type A5 and type B5.
Targeted FKRP mutation analysis is available for family members when familial mutation is known (see Test Code: FMLIS).