Fukutin (FKTN) Full Gene Sequence with Interpretation
Label Mnemonic: FCMD
Epic Lab Code: LAB2461
Downtime Form: A-1a Molecular Pathology/Diagnostics Laboratory Requisition
Molecular Pathology
6004 BT GH
384-9568
Specimen(s):
Whole Blood
Collection Medium:
Lavender top tube 3 mL (EDTA)
Minimum:
Adult minimum: 3 mL whole blood in lavender top (EDTA) tube. Children minimum: 2 mL whole blood in lavender top (EDTA) tube. Optional specimen type: Formalin Fixed paraffin embedded tissue; Fresh Frozen tissue. Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing.
Rejection Criteria:
Testing requires a dedicated collection tube.
Delivery Instructions:
Room temperature up to 24 hours. Refrigerate overnight, weekends and holidays.
Testing Schedule:
Weekly
Turn Around Time:
21 days
Reference Range:
Normal
Comments:
Mutations in the fukutin gene (FCMD, OMIM #607440) cause disorders in the dystroglycanopathy spectrum, all with autosomal recessive inheritance. FCMD mutations are known to cause Walker-Warburg syndrome at the severe end of the spectrum, and limb-girdle muscular dystrophy type 2L (LGMD2L) at the mild end of the spectrum. Fukuyama congenital muscular dystrophy is an intermediate phenotype and is the second most common muscular dystrophy among Japanese people.
Methodology:
Sequence Analysis of the coding region of the FCMD gene.
CPT Code:
81405